17p13.3-YWHAE Copy Number Variation

ORPHA: 261257 Microdeletion syndrome

Disease definition: Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
World-wide prevalence: <1 / 1 000 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.
ORPHA: 531 Deletion syndrome
247200
Disease definition: Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.
ORPHA: 217385 Microduplication syndrome
613215
Disease definition: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
World-wide prevalence: <1 / 1 000 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.

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