ODCs

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2 OMIM references -
2 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Fetal akinesia deformation sequence

Muscular dystrophy, Selcen type

DOK7	(UniProt - OMIM)		BAG3	(UniProt - OMIM)
RAPSN	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAPSN	(0.63)	BAG3

Citations in the biomedical literature:

Fetal akinesia deformation sequence		Muscular dystrophy, Selcen type
	Synonym(s): - Arthrogryposis multiplex congenita - pulmonary hypoplasia - FADS - Pena-Shokeir syndrome type 1		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Fetal akinesia deformation sequence
	Very frequent - Absence of palmar creases - Arthrogryposis - Camptodactyly of fingers - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Fetal immobility / abnormal fetal movements - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Intrauterine growth retardation - Micrognathia / retrognathia / micrognathism / retrognathism - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Frequent - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cystic hygroma - Depressed nasal bridge - Hypertelorism - Low set ears / posteriorly rotated ears - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Polyhydramnios - Scoliosis - Stillbirth / neonatal death - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Dandy-Walker anomaly - Pterygion - Short bowel - X-linked recessive inheritance
Muscular dystrophy, Selcen type
(no data available)