Obesity, Hyperphagia, And Developmental Delay; Obhd

Description

OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Obesity, Hyperphagia, And Developmental Delay; Obhd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Delayed speech and language development
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum
  • Obesity
  • Autistic behavior
  • Severe global developmental delay

And another 11 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.)
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.


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Obesity, Hyperphagia, And Developmental Delay; Obhd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Monogenic Obesity Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SIM1, UCP3, KSR2, SH2B1, LEP, LEPR, MC4R, NR0B2, NTRK2, PCSK1, POMC
Specificity
10 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Comprehensive Monogenic Obesity Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Congenital Obesity: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

SDCCAG8, SIM1, ARL6, TRIM32, PHF6, BBS7, TTC8, VPS13B, BBS10, BBS12, WDPCP, CEP290, BBS9, ALMS1, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BDNF, SDCCAG8, SIM1, HNF1A, HNF1B, WFS1, ARL6, NEUROG3, TRIM32, CEL, BBS7, TTC8, RFX6, PTF1A, BBS10, BBS12, WDPCP, GLIS3, CEP290, BBS9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %

We have 12 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IID; USH2D HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4

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