ISCA-37498-Loss

1 panel

Panel	Reviews	Mode of inheritance	Details
Green ISCA-37498-Loss Region in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Developmental delay/intellectual disability, dysmorphic features, dental anomalies, long slender fingers with 5th finger clinodactyly, and additional clinical features

Panel

Reviews

Mode of inheritance

Details

Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

review

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Developmental delay/intellectual disability, dysmorphic features, dental anomalies, long slender fingers with 5th finger clinodactyly, and additional clinical features