ODCs

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3 OMIM references -
5 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
22 signs/symptoms

Digitotalar dysmorphism

Developmental malformations - deafness - dystonia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TNNI2 TPM2	(0.52) (0.52)	ACTB ACTB

Citations in the biomedical literature:

Digitotalar dysmorphism		Developmental malformations - deafness - dystonia
	Synonym(s): - DA1 - DA1A - Distal arthrogryposis type 1		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana

Digitotalar dysmorphism		Developmental malformations - deafness - dystonia
	Very frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Clinodactyly of fingers 1,2,3,4 / overlapping fingers Frequent - Camptodactyly of fingers - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus - Ulnar deviation of fingers Occasional - Microstomia / little mouth - Pes talus		Very frequent - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Sensorineural deafness / hearing loss - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia