1. Mendelian
  2. Rare Diseases
  3. INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Intellectual Developmental Disorder With Neuropsychiatric Features; Iddnpf

Table of contents:

Description

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Genes related to Intellectual Developmental Disorder With Neuropsychiatric Features; Iddnpf

  • SLC45A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Neuropsychiatric Features; Iddnpf

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Downslanted palpebral fissures
  • Absent speech
  • Thin upper lip vermilion
  • Anxiety

And another 12 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.

Intellectual Developmental Disorder With Neuropsychiatric Features; Iddnpf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC45A1.

By Fulgent Genetics Fulgent Genetics (United States).

SLC45A1
Specificity
100 %
Genes
100 %

You can get up to -7 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 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL SPINOCEREBELLAR ATAXIA 26; SCA26 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD DENTINOGENESIS IMPERFECTA 1; DGI1 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH