ODCs

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Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

1 OMIM reference -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Developmental malformations - deafness - dystonia

AKT3	(UniProt - OMIM)		ACTB	(UniProt - OMIM)
PIK3R2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3R2	(0.63)	ACTB

Citations in the biomedical literature:

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Developmental malformations - deafness - dystonia
	Synonym(s): - MPPH syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

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


COMMON SIGNS	- High forehead - Hypertelorism

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Developmental malformations - deafness - dystonia
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Depressed nasal bridge - Ectopic / horseshoe / fused kidneys - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication		Very frequent - Autosomal dominant inheritance - 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 - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - 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