Autosomal recessive cerebelloparenchymal disorder type 3

disorder

SNOMED 715369006CUI C1859298

Overview

Autosomal recessive cerebelloparenchymal disorder type 3 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.

Abnormal finger chase test

Very frequent (80-99%)HP:0001310

Delayed ability to walk

Very frequent (80-99%)HP:0031936

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Gaze-evoked nystagmus

Very frequent (80-99%)HP:0000640

Inability to coordinate movements when walking

Very frequent (80-99%)HP:0002066

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Speech difficulties

Very frequent (80-99%)HP:0000750

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Central hypotonia

Frequent (30-79%)HP:0001252

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Diffuse cerebral atrophy

Frequent (30-79%)HP:0002506

Fallen arches

Frequent (30-79%)HP:0001763

Incoordination

Frequent (30-79%)HP:0002311

Increased reflexes

Frequent (30-79%)HP:0001347

Intellectual impairment

Frequent (30-79%)HP:0100543

Muscle weakness

Frequent (30-79%)HP:0001324

Progressive psychomotor deterioration

Frequent (30-79%)HP:0007272

Vermian atrophy

Frequent (30-79%)HP:0006855

Decreased body height

Occasional (5-29%)HP:0004322

Dilated fourth ventricle

Occasional (5-29%)HP:0002198

Eye muscle paralysis

Occasional (5-29%)HP:0000602

Hyporeflexia

Occasional (5-29%)HP:0001265

Impaired visuospatial constructive cognition

Occasional (5-29%)HP:0010794

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Lacticacidosis

Occasional (5-29%)HP:0003128

Large cisterna magna

Occasional (5-29%)HP:0002280

Neuropathy

Occasional (5-29%)HP:0009830

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Spinocerebellar ataxia(parent)

Dysgenesis of the cerebellum(parent)

Congenital non-progressive ataxia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715369006
UMLS CUI: C1859298
Fully Specified Name: Autosomal recessive cerebelloparenchymal disorder type 3 (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.