Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies; Iddfsda

Description

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies; Iddfsda

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Failure to thrive
And another 41 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies; Iddfsda Recommended genes panels

Panel Name, Specifity and genes Tested/covered
OTUD6B.

By Fulgent Genetics Fulgent Genetics in United States.

OTUD6B
Specificity
100 %
Genes
100 %

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