HHAT

hedgehog acyltransferase
OMIM: 605743, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HHAT in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092

Green HHAT in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092

Green HHAT in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome, OMIM:600092

Green HHAT in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092

Green HHAT in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092

Green HHAT in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092

Green HHAT in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nivelon-Nivelon-Mabille syndrome 600092