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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Craniorachischisis

1 associated gene
7 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Craniorachischisis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	DACT1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Craniorachischisis
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): (no synonyms)

	Classification (Orphanet): - 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: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: multigenic/multifactorial

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references

Craniorachischisis
	Very frequent - Anencephaly / acrania - Early death / lethality - Spina bifida Occasional - Diaphragmatic hernia / defect / agenesis - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Omphalocele / exomphalos - Sirenomelia / mermaid / lower limb fusion
Distal 17p13.3 microdeletion syndrome
(no data available)