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GTR Home > Conditions/Phenotypes > Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Synonyms
BIRK-FLUSSER SYNDROME; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic neurological disorder with characteristics of congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing arched thick and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Caused by homozygous mutation in the FRMD4A gene on chromosome 10p13. [from SNOMEDCT_US]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCAFCA, FRMD4, bA295P9.4, FRMD4A
    Summary: FERM domain containing 4A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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