| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Lesch-Nyhan syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Lenz microphthalmia syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Lowe syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Menkes kinky-hair syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Allan-Herndon-Dudley syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Mucopolysaccharidosis, MPS-II |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Pelizaeus-Merzbacher disease, classic form |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Pelizaeus-Merzbacher disease, connatal variant |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Type III transitional Pelizaeus-Merzbacher disease |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. |
Is a |
False |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Pelizaeus-Merzbacher disease null syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Pelizaeus-Merzbacher disease in female carrier |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Renpenning syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Simpson-Golabi-Behmel syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked agammaglobulinemia with growth hormone deficiency |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked hydrocephalus syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked hyper-IgM syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked dystonia parkinsonism |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked ichthyosis with steryl-sulphatase deficiency |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked Emery-Dreifuss muscular dystrophy |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Partington syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability hypotonic face syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability with marfanoid habitus (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked lymphoproliferative syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Christianson syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked thrombocytopenia with normal platelets (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Juvenile retinoschisis |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Severe X-linked myotubular myopathy (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Adrenomyeloneuropathy (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
FHIR