| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Autosomal dominant limb-girdle muscular dystrophy type 1H |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Walker-Warburg congenital muscular dystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Congenital macular corneal dystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| An exceedingly rare association characterized by cleft lip and progressive retinopathy. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
2 |
| A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
4 |
| Right cervical sympathetic dystrophy |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
1 |
| Left cervical sympathetic dystrophy |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
1 |
| Nail dystrophy due to Darier's disease (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Autosomal dominant limb girdle muscular dystrophy type 1C |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Duchenne muscular dystrophy |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Early onset myopathy with fatal cardiomyopathy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Muscle-eye-brain disease, congenital muscular dystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Congenital muscular dystrophy type 1A |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare acquired localized lipodystrophy disorder characterized by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterized by lipophagic lobular panniculitis and absence of vasculitis. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Alvorlig autosomal recessiv muskeldystrofi i barnealderen – nordafrikansk type |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
2 |
| Nail dystrophy co-occurrent with reactive arthritis triad (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
4 |
| Neuroaxonal leukodystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Congenital stationary night blindness |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Dominant drusen |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Macular retinoschisis |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Macular and peripheral retinoschisis |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Macular and peripheral retinoschisis |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
4 |
| Galactocerebroside beta-galactosidase deficiency - early onset |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Saldino-Mainzer dysplasia |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Francois syndrome (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Hyaline dystrophy of Bruch's membrane |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Achromatopsia |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Retinohepatoendocrinologic syndrome (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Localised lipodystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Nail dystrophy due to eczema (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Complete achromatopsia |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Blue cone monochromatism (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Cogan-Reese syndrome (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Renal dysplasia and retinal aplasia |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Nail dystrophy due to cytotoxic therapy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Lipoatrophy and lipodystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Pelizaeus Merzbacher like disease due to HSPD1 mutation |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Iridocorneal endothelial syndrome of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Iridocorneal endothelial syndrome of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Iridocorneal endothelial syndrome of left eye (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Iridocorneal endothelial syndrome of right eye (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Bilateral fundus flavimaculatus of eyes |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Bilateral fundus flavimaculatus of eyes |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy with high bone turnover |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy with normal bone turnover (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy with low bone turnover (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
FHIR