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1 OMIM reference -
4 associated genes
8 signs/symptoms

COMMON GENES: 1

Hypoplastic tibiae - postaxial polydactyly

1 OMIM reference -
2 associated genes
14 signs/symptoms

Schizencephaly

Hypoplastic tibiae - postaxial polydactyly

COL4A1	(UniProt - OMIM)		LMBR1	(UniProt - OMIM)
EMX2	(UniProt - OMIM)		SHH	(UniProt - OMIM)
SHH	(UniProt - OMIM)
SIX3	(UniProt - OMIM)


COMMON GENES	SHH

Citations in the biomedical literature:

Schizencephaly		Hypoplastic tibiae - postaxial polydactyly
	Synonym(s): (no synonyms)		Synonym(s): - Werner mesomelic syndrome

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Schizencephaly		Hypoplastic tibiae - postaxial polydactyly
	Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Porencephaly - Strabismus / squint Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Clinodactyly of fifth finger - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Syndactyly of fingers / interdigital palm - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Preaxial polydactyly (hand) Occasional - Complete claw hand / camptodactyly of all fingers - Fingerlike / triphalangeal thumb - Restricted joint mobility / joint stiffness / ankylosis - Short columella / depressed nasal tip - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence