Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Preferred Label : Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism;

Symbol : IDDMOH;

CISMeF acronym : MRD27; CSS9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD27; Mental retardation, autosomal dominant 27; Coffin-siris syndrome 9; CSS9;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box 11 gene (SOX11, 600898.0001);

Prefixed ID : #615866;

Details

Origin ID

615866;

UMLS CUI

C4014528;

Currated CISMeF NLP mapping
- Coffin-Siris syndrome 9 [DO Concept]
DO Cross reference
- Coffin-Siris syndrome 9 [DO Concept]
Genes related to phenotype
- Sry-box 11 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Clinodactyly [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed puberty [HPO term]
- Depressed nasal bridge [HPO term]
- Everted lower lip vermilion [HPO term]
- Full cheeks [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypoplastic fifth fingernail [HPO term]
- Hypoplastic fifth toenail [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Long eyelashes [HPO term]
- Long nose [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Neonatal onset [HPO term]
- Open mouth [HPO term]
- Poor suck [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Renal malrotation [HPO term]
- Short chin [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sparse scalp hair [HPO term]
- Thick vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
See also inter- (CISMeF)
- SOX11 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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