Deeah syndrome

Preferred Label : Deeah syndrome;

Symbol : DEEAH;

CISMeF acronym : DEEAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities;

Prefixed ID : #619004;

Details

Origin ID

619004;

UMLS CUI

C5436579;

Genes related to phenotype
- Map kinase-activating death domain [OMIM gene]
HPO term(s)
- Abnormality of temperature regulation [HPO term]
- Alacrima [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- C1-C2 subluxation [HPO term]
- Cervical hemivertebrae [HPO term]
- Chronic constipation [HPO term]
- Chronic diarrhea [HPO term]
- Cryptorchidism [HPO term]
- Death in adolescence [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased body weight [HPO term]
- Decreased circulating free T3 [HPO term]
- Decreased circulating free T4 level [HPO term]
- Decreased heart rate variability [HPO term]
- Decreased hemoglobin concentration [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dysphagia [HPO term]
- EEG abnormality [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Extra-axial cerebrospinal fluid accumulation [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hypermetropia [HPO term]
- Hypohidrosis [HPO term]
- Hypotonia [HPO term]
- Impaired pain sensation [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Malabsorption [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Narrow palate [HPO term]
- Neonatal hypoglycemia [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal respiratory distress [HPO term]
- Overlapping fingers [HPO term]
- Panhypopituitarism [HPO term]
- Polyhydramnios [HPO term]
- Prominent nasal tip [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Severe global developmental delay [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Wide intermamillary distance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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