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Distal 16p11.2 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Muenke syndrome

1 OMIM reference -
1 associated gene
18 signs/symptoms

Distal 16p11.2 microdeletion syndrome

Muenke syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2B1	(0.77)	FGFR3

Citations in the biomedical literature:

Distal 16p11.2 microdeletion syndrome		Muenke syndrome
	Synonym(s): - Distal del(16)(p11.2) - Distal monosomy 16p11.2		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - 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: 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 - 1 MeSH reference: C537369

Muenke syndrome
	Very frequent - Autosomal dominant inheritance Frequent - Brachycephaly / flat occiput - Carpal bones fusion / synostosis - Cone epiphyses / epiphysis - Cranial hypertension - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Plagiocephaly - Proptosis / exophthalmos - Ptosis - Sensorineural deafness / hearing loss - Short foot / brachydactyly of toes - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis Occasional - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly
Distal 16p11.2 microdeletion syndrome
(no data available)