THUMPD1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green THUMPD1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Green THUMPD1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Green THUMPD1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Green THUMPD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Syndromic disease, MONDO:0002254, THUMPD1-related
Green THUMPD1 in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Syndromic disease, MONDO:0002254, THUMPD1-related

5 panels