Ataxia-telangiectasia-like disorder 1
ORPHA: 251347
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Ataxia-telangiectasia-like disorder 1, sourced from HPO and Orphanet clinical annotations.
AtaxiaMask-like faciesSlow saccadic eye movementsOculomotor apraxiaDysarthriaCerebellar atrophyGeneralized hypotoniaDysmetriaReduced tendon reflexesCerebellar vermis hypoplasiaDystoniaGait ataxiaChoreaIntention tremorDilated fourth ventricleOrofacial dyskinesiaAbsent Achilles reflexEnlarged interhemispheric fissureAbnormality of ocular smooth pursuitGaze-evoked nystagmusDysmetric saccadesDelayed speech and language developmentHypergonadotropic hypogonadismMyoclonusJoint hypermobilityPes cavusDysdiadochokinesisDroolingFrequent fallsHyperactive deep tendon reflexesSensorimotor neuropathyVertical nystagmusSmall posterior fossaShort stature
Classification & Codes
Orphanet Code
ORPHA:251347Ataxia-telangiectasia-like disorder 1
| Orphanet | ORPHA:251347 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO