Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Preferred Label : Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia;

Symbol : NEDDISH;

CISMeF acronym : NEDDISH;

Type : Phenotype, molecular basis known;

Prefixed ID : #619005;

Details

Origin ID

619005;

UMLS CUI

C5436585;

Genes related to phenotype
- Map kinase-activating death domain [OMIM gene]
HPO term(s)
- Alacrima [HPO term]
- Anteverted nares [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Chronic constipation [HPO term]
- Chronic diarrhea [HPO term]
- Cryptorchidism [HPO term]
- Death in childhood [HPO term]
- Decreased body weight [HPO term]
- Decreased heart rate variability [HPO term]
- Decreased hemoglobin concentration [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- EEG abnormality [HPO term]
- Excessive femoral anteversion [HPO term]
- Exotropia [HPO term]
- Extra-axial cerebrospinal fluid accumulation [HPO term]
- Frontal bossing [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Impaired pain sensation [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphosis [HPO term]
- Long eyelashes [HPO term]
- Low insertion of columella [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Moderate global developmental delay [HPO term]
- Motor delay [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal respiratory distress [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Thick vermilion border [HPO term]
- Thrombocytopenia [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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