Ceroid lipofuscinosis, neuronal, 15

Preferred Label : Ceroid lipofuscinosis, neuronal, 15;

Symbol : CLN15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CONRIBA; Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities;

Prefixed ID : #619173;

Details

Origin ID

619173;

UMLS CUI

C5543020;

Genes related to phenotype
- Chloride channel 6 [OMIM gene]
HPO term(s)
- Abnormality of movement [HPO term]
- Abnormality of temperature regulation [HPO term]
- Alternating esotropia [HPO term]
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- EEG abnormality [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperhidrosis [HPO term]
- Hypertelorism [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Long philtrum [HPO term]
- Motor delay [HPO term]
- Neurogenic bladder [HPO term]
- Nystagmus [HPO term]
- Respiratory insufficiency [HPO term]
- Sensory neuropathy [HPO term]
- Thin upper lip vermilion [HPO term]
- Trichorrhexis nodosa [HPO term]
- Type 2 muscle fiber predominance [HPO term]
Not associated HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Hearing abnormality [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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