FRMD4A

Panel	Reviews	Mode of inheritance	Details
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Amber FRMD4A in Mendeliome Version 1.1891	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 1.269	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 0.6063	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 1.255	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

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