Disease

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Definition

An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2.

Synonyms

NEDDFL

Cross References

MIM:617755

Parent Terms

autosomal dominant intellectual developmental disorder

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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