Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome

disorder

SNOMED 715984007CUI C1859093

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased circulating follicle stimulating hormone concentration

Always present (100%)HP:0030341

Decreased circulating luteinizing hormone level

Always present (100%)HP:0030344

Decreased serum testosterone level

Always present (100%)HP:0040171

Dysdiadochokinesis

Always present (100%)HP:0002075

Hyporeflexia

Always present (100%)HP:0001265

Infratentorial atrophy

Always present (100%)HP:0001272

Primary amenorrhea

Always present (100%)HP:0000786

Retinal pigment epithelial atrophy

Always present (100%)HP:0007722

Chorioretinal atrophy

Very frequent (80-99%)HP:0000533

Chorioretinal dystrophy

Very frequent (80-99%)HP:0001135

Hyporeflexia at ankle joints

Very frequent (80-99%)HP:0009072

Inability to coordinate movements when walking

Very frequent (80-99%)HP:0002066

Low gonadotropins (secondary hypogonadism)

Very frequent (80-99%)HP:0000044

Decreased patellar reflex

Frequent (30-79%)HP:0011808

Distal muscle atrophy, upper and lower limbs

Frequent (30-79%)HP:0003693

Hypoplasia of the pituitary gland

Frequent (30-79%)HP:0010627

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mental retardation, mild

Frequent (30-79%)HP:0001256

Overactive knee reflex

Frequent (30-79%)HP:0007083

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Abnormal shape of upper motor neuron

Occasional (5-29%)HP:0002127

Extensor plantar responses

Occasional (5-29%)HP:0003487

Areflexia

HP:0001284

Ataxia

HP:0001251

Breakdown of light-sensitive cells in back of eye

HP:0000556

Decreased circulating gonadotropin level

HP:0030339

Decreased visual acuity, progressive

HP:0000529

Hyperactive Achilles reflex

Excluded (<1%)HP:0033206

Photophobia

HP:0000613

Scanning speech

HP:0002168

Related Conditions

Hereditary choroidal dystrophy(parent)

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Hereditary ataxia(parent)

Hypogonadotropic hypogonadism(parent)

Chronic brain syndrome(parent)

Chronic disorder of genitourinary system(parent)

Quick Facts

SNOMED CT: 715984007
UMLS CUI: C1859093
Fully Specified Name: Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (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.