1. Mendelian
  2. Rare Diseases
  3. BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS

Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome

Table of contents:

Description

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

Genes related to Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome

  • THOC6

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Epicanthus
  • Myopia
  • Ventricular septal defect

And another 34 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.

Alternative names

Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations, beaulieu-boycott-innes syndrome, bbis.

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.

Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
THOC6.

By Fulgent Genetics Fulgent Genetics (United States).

THOC6
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.

ORPHANET 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 NEPHROGENIC DIABETES INSIPIDUS DESBUQUOIS DYSPLASIA 2; DBQD2 LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I