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

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).

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.

Click here to know more about Mendelian.

Incidence and onset information

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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 %

We have -7 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more