Intellectual Developmental Disorder with Microcephaly and with or Without Ocular Malformations or Hypogonadotropic Hypogonadism (IDDMOH)

Alias:
Coffin-Siris Syndrome 9
Mrd27
Mental Retardation, Autosomal Dominant 27
Iddmoh
Css9
Autosomal Dominant Non-Syndromic Intellectual Disability 27
Intellectual Disability, Autosomal Dominant 27
Autosomal Dominant Mental Retardation 27
Coffin-Siris Syndrome, Type 9
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder with Microcephaly and with or Without Ocular Malformations or Hypogonadotropic Hypogonadism, also known as coffin-siris syndrome 9, is related to coffin-siris syndrome 1 and cryptorchidism, unilateral or bilateral. An important gene associated with Intellectual Developmental Disorder with Microcephaly and with or Without Ocular Malformations or Hypogonadotropic Hypogonadism is SOX11 (SRY-Box Transcription Factor 11). Affiliated tissues include uterus and kidney, and related phenotypes are microcephaly and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
12
62
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top