ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Syndactyly type 3

Adult-onset autosomal dominant leukodystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	LMNB1

Citations in the biomedical literature:

Syndactyly type 3		Adult-onset autosomal dominant leukodystrophy
	Synonym(s): - SD3 - Syndactyly of fingers 4 and 5		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538154		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Syndactyly type 3		Adult-onset autosomal dominant leukodystrophy
	Very frequent - Syndactyly of fingers / interdigital palm Frequent - Camptodactyly of some fingers Occasional - Short foot / brachydactyly of toes		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Total / partial trisomy / duplication Frequent - Abnormal gait - Constipation - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Hypertonia / spasticity / rigidity / stiffness - Hypotension - Impotence / painful erection / priapism / erection troubles - Nystagmus - Sphincter dysfunction - Tremor Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia