17p13.3-YWHAE Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:1247834-1303556

Disorder Information from Orphanet

1. ORPHA: 261257 Microdeletion syndrome
   OMIM:
   Disease description: No description available.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
2. ORPHA: 531 Deletion syndrome
   OMIM: 247200
   Disease description: No description available.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: Abnormality of upper lip, Epicanthus, High forehead, Anteverted nares, Seizure, Lissencephaly, Growth delay, Cerebral cortical atrophy, EEG abnormality, Short nose
3. ORPHA: 217385 Microduplication syndrome
   OMIM: 613215
   Disease description: No description available.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: Narrow mouth, Hypertelorism, High forehead, Wide nose, Hypotonia, Global developmental delay, Frontal bossing, Short nose

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	7531	ENSG00000108953	P62258