Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome
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
Clinical FeaturesTop most frequent phenotypes and symptoms related to Thoc6-related Developmental Delay-microcephaly-facial Dysmorphism Syndrome
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Abnormal facial shape
- Cleft palate
- Ventricular septal defect
And another 34 symptoms. If you need more information about this disease we can help you.
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.
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 researchersCurrently, 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|
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn 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 THOMSEN AND BECKER DISEASE NAXOS DISEASE; NXD FAMILIAL MEDITERRANEAN FEVER; FMF AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL WILLIAMS-BEUREN SYNDROME; WBS