Gene Role Disease OMIM Descriptions Sources
DYM causing SMC1 607326 The disease is caused by mutations affecting the gene represented in this entry. A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. [read more] 18996921
12491225
19005420
DYNC2H1 causing ATD3 613091 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. [read more] 19442771
23456818
DYNC2H1 causing SRPS2B 615087 The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (short rib-polydactyly syndrome 2A/B) (PubMed:21211617). A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length. [read more] 22499340
DYNC2H1 causing SRPS3 263510 The disease is caused by mutations affecting the gene represented in this entry. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. [read more] 19442771
19361615
DYSF causing LGMD2B 253601 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. [read more] 10196377
9731526
11134403
14678801
15469449
16010686
16100712
16705711
16996541
17287450
18306167
18853459
DYSF causing MMD1 254130 The disease is caused by mutations affecting the gene represented in this entry. A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. [read more] 10196377
11959863
9731526
11134403
15469449
16010686
16100712
17287450
18306167
18853459
11468312
12796534
15477515
15116377
15515206
ECEL1 causing DA5D 615065 The disease is caused by mutations affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592). An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. [read more] 23261301
23808592
23829171
23236030
EGR2 causing CHN 605253 The disease is caused by mutations affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2 (PubMed:22522483). A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. [read more] 9537424
22522483
EOGT causing AOS4 615297 The disease is caused by mutations affecting the gene represented in this entry. A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. [read more] 23522784
ERBB3 causing LCCS2 607598 The disease is caused by mutations affecting the gene represented in this entry. A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. [read more] 17701904