Microcephaly 26, primary, autosomal dominant

Preferred Label : Microcephaly 26, primary, autosomal dominant;

Symbol : MCPH26;

Type : Phenotype, molecular basis known;

Prefixed ID : #619179;

Details

Origin ID

619179;

UMLS CUI

C5543048;

Genes related to phenotype
- Lamin b1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Antenatal onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Chronic constipation [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysplastic corpus callosum [HPO term]
- Extra-axial cerebrospinal fluid accumulation [HPO term]
- Failure to thrive [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Pachygyria [HPO term]
- Patent foramen ovale [HPO term]
- Pointed chin [HPO term]
- Prominent eyelashes [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding tongue [HPO term]
- Recurrent pneumonia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Spastic tetraparesis [HPO term]
- Stereotypical hand wringing [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal dominant primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant primary microcephaly [ORDO Disease]

Keyword's position in hierarchy(ies) :

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