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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Greig cephalopolysyndactyly syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Greig cephalopolysyndactyly syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Greig cephalopolysyndactyly syndrome
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - GCPS

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537300

Greig cephalopolysyndactyly 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 - High forehead - Hypertelorism - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telecanthus / canthal dystopy Occasional - Broad / bifid big toe - Broad / bifid thumb - Corpus callosum / septum pellucidum total / partial agenesis - 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) - Seizures / epilepsy / absences / spasms / status epilepticus - Umbilical hernia
Distal 17p13.3 microdeletion syndrome
(no data available)