ABHD16A

abhydrolase domain containing 16A
OMIM: 142620, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red ABHD16A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM#619735
Green ABHD16A in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities
Amber ABHD16A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 seizures myoclonic seizures developmental delay
Green ABHD16A in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities
Green ABHD16A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities
Green ABHD16A in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities
Green ABHD16A in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities
Green ABHD16A in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735