ISCA-37430-Loss

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ISCA-37430-Loss Region in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200

Green ISCA-37430-Loss Region in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200

Green ISCA-37430-Loss Region in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200

Green ISCA-37430-Loss Region in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200

Green ISCA-37430-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200

Green ISCA-37430-Loss Region in Common deletion and duplication syndromes


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200

Green ISCA-37430-Loss Region in Fetal anomalies


Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Miller-Dieker lissencephaly syndrome, MIM# 247200