DOHH

deoxyhypusine hydroxylase
OMIM: 611262, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green DOHH in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Green DOHH in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Green DOHH in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Green DOHH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, DOHH-related (MONDO#0700092)
Green DOHH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Green DOHH in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Green DOHH in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066