Multiple congenital anomalies-neurodevelopmental syndrome, X-linked

Preferred Label : Multiple congenital anomalies-neurodevelopmental syndrome, X-linked;

Symbol : MCAND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Linked syndrome;

Prefixed ID : #301056;

Details

Origin ID

301056;

UMLS CUI

C5542341;

Genes related to phenotype
- Otu domain-containing protein 5 [OMIM gene]
HPO term(s)
- Abnormal left ventricular function [HPO term]
- Agenesis of corpus callosum [HPO term]
- Arachnoid cyst [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Astigmatism [HPO term]
- Autistic behavior [HPO term]
- Butterfly vertebrae [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Corneal opacity [HPO term]
- Coxa valga [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Deep palmar crease [HPO term]
- Double outlet right ventricle [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duplicated collecting system [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Large earlobe [HPO term]
- Leukopenia [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Megarectum [HPO term]
- Metopic synostosis [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Nystagmus [HPO term]
- Optic nerve hypoplasia [HPO term]
- Overlapping fingers [HPO term]
- Pointed chin [HPO term]
- Polyhydramnios [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Pulmonary artery atresia [HPO term]
- Pulmonic stenosis [HPO term]
- Reduced blood folate concentration [HPO term]
- Redundant neck skin [HPO term]
- Retrognathia [HPO term]
- Rocker bottom foot [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Small nail [HPO term]
- Strabismus [HPO term]
- Talipes equinovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Thrombocytopenia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vesicoureteral reflux [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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