| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked recessive sensory neuropathy |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Ocular albinism, type I |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Chondrodysplasia punctata, X-linked recessive type |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. 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-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked epilepsy-learning disabilities-behaviour disorders syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Juberg Marsidi syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability have been reported in some individuals. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Snyder-Robinson syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Siderius type is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Stocco Dos Santos type is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked mental retardation, Miles-Carpenter type is characterized by severe intellectual deficit, microcephaly, exotropia and low digital arches. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| 3-Methylglutaconic aciduria type 2 |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Borjeson-Forssman-Lehmann syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Atrophia bulborum hereditaria (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Bulbospinal neuronopathy |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Blue cone monochromatism (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Cutis laxa, x-linked |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Congenital adrenal hypoplasia, X-linked |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Choroideremia |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28). |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Danon disease |
Is a |
False |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Deafness-dystonia-optic neuronopathy syndrome (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Dent's disease (disorder) |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| X-linked Ehlers-Danlos syndrome |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterised by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. |
Is a |
False |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1. |
Is a |
True |
X-linked recessive hereditary disease |
Inferred relationship |
Some |
|
| 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 |
|
FHIR