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X-linked distal arthrogryposis multiplex congenita

1 OMIM reference -
1 associated gene
52 connected diseases
30 signs/symptoms

Disease	Type of connection
Hereditary breast and ovarian cancer syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Myxofibrosarcoma
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Giant axonal neuropathy
Intellectual deficit, X-linked, Nascimento type
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Split hand-split foot malformation
Fanconi anemia
MALT lymphoma
AICA-ribosiduria
Giant cell glioblastoma
Gliosarcoma
Burkitt lymphoma
Cornelia de Lange syndrome
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Familial leiomyomatosis
Familial melanoma
Fumaric aciduria
Isolated CoQ-cytochrome C reductase deficiency
Large congenital melanocytic nevus
Mosaic variegated aneuploidy syndrome
Muscular dystrophy, Selcen type
Oculocutaneous albinism type 2
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Cerebellar ataxia - hypogonadism
Distal hereditary motor neuropathy type 5
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Osteogenesis imperfecta type 3
Pilomatrixoma
Acute infantile liver failure-multisystemic involvement syndrome
Autosomal recessive nonsyndromic intellectual deficit
Dubowitz syndrome
Usher syndrome type 1

Synonym(s): - SMAX2 - Spinal muscular atrophy with arthrogryposis - X-linked infantile spinal muscular atrophy - X-linked spinal muscular atrophy type 2

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		External references: 1 OMIM reference - 1 MeSH reference: C535380

Gene symbol	UniProt reference	OMIM reference
UBA1	P22314	314370

Very frequent

- Abnormal gait
- Camptodactyly of fingers
- Restricted joint mobility / joint stiffness / ankylosis
- X-linked recessive inheritance

Frequent

- Broad nose / nasal bridge
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Proximally set thumb
- Scoliosis
- Short neck
- Short / small nose
- Simian crease / transverse / unique palmar crease
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional

- Abnormally placed nipples
- Dermoid sinus / dimple / pit (excluding sacral)
- Excess nuchal skin without pterygium colli
- Long / large ear
- Micropenis / small penis / agenesis
- Mouth held open
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Thin / hypoplastic / hyperconvex fingernails