Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin

Preferred Label : Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin;

Symbol : MNDLFH;

Type : Phenotype, molecular basis known;

Prefixed ID : #619769;

Détails

Origin ID

619769;

UMLS CUI

C5676928;

Genes related to phenotype
- Zinc finger- and btb domain-containing protein 7a [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant germline de novo mutation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hiatus hernia [HPO term]
- Hypotonia [HPO term]
- Increased size of nasopharyngeal adenoids [HPO term]
- Intellectual disability [HPO term]
- Laryngomalacia [HPO term]
- Macrocephaly [HPO term]
- Motor delay [HPO term]
- Overweight [HPO term]
- Patent ductus arteriosus [HPO term]
- Persistence of hemoglobin F [HPO term]
- Persistence of primary teeth [HPO term]
- Prominent forehead [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Seizure [HPO term]
- Sleep apnea [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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