1. Mendelian
  2. Rare Diseases
  3. GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies; Gdaccf

Table of contents:

Description

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Genes related to Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies; Gdaccf

  • ZNF148

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Clinical Features

Top most frequent phenotypes and symptoms related to Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies; Gdaccf

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Feeding difficulties
  • Epicanthus

And another 45 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including neonatal onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies; Gdaccf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ZNF148.

By Fulgent Genetics Fulgent Genetics (United States).

ZNF148
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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