Leukodystrophy, hypomyelinating, 17

Preferred Label : Leukodystrophy, hypomyelinating, 17;

Symbol : HLD17;

CISMeF acronym : HLD17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aminoacyl tRNA complex-interacting multifunctional protein 2 gene (AIMP2, 600859.0001);

Prefixed ID : #618006;

Details

Origin ID

618006;

UMLS CUI

C4693912;

Genes related to phenotype
- Aminoacyl trna synthetase complex-interacting multifunctional protein 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gingival overgrowth [HPO term]
- Hirsutism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Kyphoscoliosis [HPO term]
- Leukodystrophy [HPO term]
- Low hanging columella [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Progressive [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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