ISCA-37493-Loss

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ISCA-37493-Loss Region in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.434

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • 1q43q44 microdeletion syndrome
  • intellectual disability
  • seizures
  • microcephaly
  • corpus callosum abnormalities
Tags
  • SV/CNV

Green ISCA-37493-Loss Region in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.414

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • 1q43q44 microdeletion syndrome
    • intellectual disability
    • seizures
    • microcephaly
    • corpus callosum abnormalities
    Tags
    • SV/CNV

    Green ISCA-37493-Loss Region in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.593

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • 1q43q44 microdeletion syndrome
    • intellectual disability
    • seizures
    • microcephaly
    • corpus callosum abnormalities
    Tags
    • SV/CNV

    Green ISCA-37493-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • 1q43q44 microdeletion syndrome
    • intellectual disability
    • seizures
    • microcephaly
    • corpus callosum abnormalities
    Tags
    • SV/CNV

    Green ISCA-37493-Loss Region in Common deletion and duplication syndromes


    Version 0.158

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 1q43q44 microdeletion syndrome
    • intellectual disability
    • seizures
    • microcephaly
    • corpus callosum abnormalities
    Tags
    • SV/CNV