Marbach-schaaf neurodevelopmental syndrome

Preferred Label : Marbach-schaaf neurodevelopmental syndrome;

Symbol : MASNS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619680;

Details

Origin ID

619680;

UMLS CUI

C5562050;

Genes related to phenotype
- Protein kinase, camp-dependent, regulatory, type I, beta [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Astigmatism [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad nasal tip [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Enuresis nocturna [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- Hemidystonia [HPO term]
- Hypotelorism [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Obesity [HPO term]
- Obstructive sleep apnea [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Recurrent hand flapping [HPO term]
- Recurrent otitis media [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short palpebral fissure [HPO term]
- Speech apraxia [HPO term]
- Submucous cleft hard palate [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Torticollis [HPO term]
- Tremor [HPO term]
- Upslanted palpebral fissure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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