7q11.23-distal Copy Number Variation

ORPHA: 254351 Distal microdeletion syndrome
613729
Disease definition: Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
World-wide prevalence: <1 / 1 000 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.
ORPHA: 261102 Distal microduplication syndrome

Disease definition: Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
World-wide prevalence: <1 / 1 000 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
RHBDD2	rhomboid domain containing 2	57414	ENSG00000005486	Q6NTF9
POR	cytochrome p450 oxidoreductase	5447	ENSG00000127948	P16435
TMEM120A	transmembrane protein 120A	83862	ENSG00000189077	Q9BXJ8
STYXL1	serine/threonine/tyrosine interacting like 1	51657	ENSG00000127952	Q9Y6J8
MDH2	malate dehydrogenase 2	4191	ENSG00000146701	P40926
SRRM3	serine/arginine repetitive matrix 3	222183	ENSG00000177679	A6NNA2
HSPB1	heat shock protein family B (small) member 1	3315	ENSG00000106211	P04792
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	7532	ENSG00000170027	P61981
SSC4D	scavenger receptor cysteine rich family member with 4 domains	136853	ENSG00000146700	Q8WTU2
ZP3	zona pellucida glycoprotein 3	7784	ENSG00000188372	P21754