Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Preferred Label : Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2;

Symbol : IMNEPD2;

Type : Phenotype, molecular basis known;

Prefixed ID : #619418;

Details

Origin ID

619418;

UMLS CUI

C5543623;

Genes related to phenotype
- Tyrosyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Accessory spleen [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Cholestatic liver disease [HPO term]
- Cirrhosis [HPO term]
- Constriction of peripheral visual field [HPO term]
- Deeply set eye [HPO term]
- Delayed gross motor development [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Expressive language delay [HPO term]
- Failure to thrive [HPO term]
- Failure to thrive in infancy [HPO term]
- Full cheeks [HPO term]
- Generalized-onset seizure [HPO term]
- Growth delay [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoglycemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Infra-orbital fold [HPO term]
- Joint hypermobility [HPO term]
- Lymphadenopathy [HPO term]
- Macronodular cirrhosis [HPO term]
- Macular atrophy [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Multiple pulmonary cysts [HPO term]
- Neonatal hypoglycemia [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Polysplenia [HPO term]
- Premature birth [HPO term]
- Primary amenorrhea [HPO term]
- Profound hearing impairment [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Sepsis [HPO term]
- Splenomegaly [HPO term]
- Tube feeding [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vomiting [HPO term]
- Weakness of facial musculature [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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