1. Mendelian
  2. Rare Diseases
  3. NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM

Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations; Nedmhm

Table of contents:

Genes related to Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations; Nedmhm

  • ARHGEF2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations; Nedmhm

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus
  • Ptosis
  • High palate
  • Delayed speech and language development
  • Motor delay
  • Downslanted palpebral fissures

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features 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.

Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations; Nedmhm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Choreatic Movement Disorders Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN2, ATXN7, TBP, NKX2-1, FRRS1L, JPH3, RNF216, ADCY5, C9orf72, FTL, GM2A, GNAO1, HTT, KCNA1, ARHGEF2, ATXN3, ATM, OPA3, PDE10A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
ARHGEF2.

By Fulgent Genetics Fulgent Genetics (United States).

ARHGEF2
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

Learn more

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 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2 SENGERS SYNDROME OROFACIODIGITAL SYNDROME I; OFD1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1