Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum

Preferred Label : Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum;

Symbol : PEBAT;

CISMeF acronym : PEBAT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tubulin-specific chaperone D gene (TBCD, 604649.0001);

Prefixed ID : #617193;

Details

Origin ID

617193;

UMLS CUI

C5567454;

Currated CISMeF NLP mapping
- Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum [NCIt concept]
Genes related to phenotype
- Tubulin-specific chaperone D [OMIM gene]
HPO term(s)
- Absent smooth pursuit [HPO term]
- Absent speech [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Ataxia [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bowel incontinence [HPO term]
- Brisk reflexes [HPO term]
- CNS hypomyelination [HPO term]
- Cataplexy [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Diffuse cerebral atrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Generalized tonic seizure [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low hanging columella [HPO term]
- Lower limb spasticity [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Muscle weakness [HPO term]
- Narrow forehead [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Plagiocephaly [HPO term]
- Respiratory insufficiency [HPO term]
- Retractile testis [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sparse eyebrow [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Tongue fasciculations [HPO term]
- Upper limb spasticity [HPO term]
- Upslanted palpebral fissure [HPO term]
- Urinary incontinence [HPO term]
- Ventriculomegaly [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum [NCIt concept]
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) [SNOMED CT concept]
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ORDO Disease]

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