Overview
Ataxia-telangiectasia-like disorder is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Unsteady walk
Always present (100%)HP:0002317
Ataxia
Very frequent (80-99%)HP:0001251
Abnormal finger-nose-finger test
Frequent (30-79%)HP:0001310
Absent Achilles reflex
Frequent (30-79%)HP:0003438
Cerebellar tremor
Frequent (30-79%)HP:0002080
Cerebellar vermis hypoplasia
Frequent (30-79%)HP:0001320
Choreoathetoid movements
Frequent (30-79%)HP:0001266
Defective or absent horizontal voluntary eye movements
Frequent (30-79%)HP:0000657
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dilated fourth ventricle
Frequent (30-79%)HP:0002198
Diminished deep tendon reflexes
Frequent (30-79%)HP:0001315
Dystonic disease
Frequent (30-79%)HP:0001332
Enlarged longitudinal cerebral fissure
Frequent (30-79%)HP:0100953
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Horizontal jerk nystagmus
Frequent (30-79%)HP:0007286
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Mask-like facies
Frequent (30-79%)HP:0000298
Orofacial dyskinesias
Frequent (30-79%)HP:0002310
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Slow visual tracking
Frequent (30-79%)HP:0000514
Cavus foot
Occasional (5-29%)HP:0001761
Dysdiadochokinesis
Occasional (5-29%)HP:0002075
Dysmetric eye movements
Occasional (5-29%)HP:0000641
Gaze-evoked nystagmus
Occasional (5-29%)HP:0000640
Hyperactive deep tendon reflexes
Occasional (5-29%)HP:0006801
Impaired smooth pursuit ocular movements
Occasional (5-29%)HP:0000617
Jerking
Occasional (5-29%)HP:0001336
Joint instability
Occasional (5-29%)HP:0001382
Nerve damage causing decreased feeling and movement
Occasional (5-29%)HP:0007141
Primary hypogonadism
Occasional (5-29%)HP:0000815
Related Conditions
Quick Facts
- SNOMED CT
- 700058006
- UMLS CUI
- C1858391
- Fully Specified Name
- Ataxia-telangiectasia-like disorder (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.