ISCA-46299-Gain

1 panel

Panel	Reviews	Mode of inheritance	Details
Green ISCA-46299-Gain Region in Intellectual disability Level 2: Developmental disorders Version 9.355 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes X linked intellectual disability (XLID) PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate PMID:22840365 Mild intellectual disability PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)

Panel

Reviews

Mode of inheritance

Details

Level 2: Developmental disorders
Version 9.355
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

X linked intellectual disability (XLID)
PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate
PMID:22840365 Mild intellectual disability
PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)