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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

YWHAE
(UniProt - OMIM)
 ASNS
(UniProt - OMIM)

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


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
ASNS



Distal 17p13.3 microdeletion syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- Asparagine synthetase deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.