NHLH2

nescient helix-loop-helix 2
OMIM: 162361, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red NHLH2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755

Red NHLH2 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755

Red NHLH2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
  • Expert Review
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755

Red NHLH2 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755