ODCs

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Greig cephalopolysyndactyly syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Miller-Dieker syndrome

1 OMIM reference -
3 associated genes
18 signs/symptoms

Greig cephalopolysyndactyly syndrome

Miller-Dieker syndrome

GLI3	(UniProt - OMIM)	HIC1	(UniProt - OMIM)
		PAFAH1B1	(UniProt - OMIM)
		YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLI3	(0.63)	YWHAE

Citations in the biomedical literature:

Greig cephalopolysyndactyly syndrome		Miller-Dieker syndrome
	Synonym(s): - GCPS		Synonym(s): - Lissencephaly due to 17p13.3 deletion - Monosomy 17p13.3 - Telomeric deletion 17p

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

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 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 - 1 MeSH reference: C537300		External references: 1 OMIM reference - 1 MeSH reference: D054221


COMMON SIGNS	- Corpus callosum / septum pellucidum total / partial agenesis - High forehead - Seizures / epilepsy / absences / spasms / status epilepticus

Greig cephalopolysyndactyly syndrome		Miller-Dieker syndrome
	Very frequent - Autosomal dominant inheritance - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) - Preaxial polydactyly of toes / big toe duplication Frequent - Advanced bone age - Broad nose / nasal bridge - Frontal bossing / prominent forehead - Hypertelorism - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telecanthus / canthal dystopy Occasional - Broad / bifid big toe - Broad / bifid thumb - Craniostenosis / craniosynostosis / sutural synostosis - Diaphragmatic hernia / defect / agenesis - Hydrocephaly - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Postaxial polydactyly of toes / fifth supernumerary toe - Preaxial polydactyly (hand) - Umbilical hernia		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Anteverted nares / nostrils - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Short / small nose Frequent - Polyhydramnios - Structural anomalies of the cardio-circulatory system Occasional - Ataxia / incoordination / trouble of the equilibrium - Clinodactyly of fifth finger - Omphalocele / exomphalos - Renal disease / nephropathy - Sacral sinus / dimple