FRMD4A

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber FRMD4A in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Amber FRMD4A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Amber FRMD4A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Amber FRMD4A in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert Review Phenotypes Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819

4 panels