Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

disorder

SNOMED 93466004CUI C0685838

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 body height

Always present (100%)HP:0004322

Gonadal dysgenesis

Always present (100%)HP:0000133

Mental retardation, mild

Always present (100%)HP:0001256

Nerve damage causing decreased feeling and movement

Always present (100%)HP:0007141

Gonadotropin excess

Very frequent (80-99%)HP:0000837

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Cerebellar tremor

Frequent (30-79%)HP:0002080

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Premature menopause

Frequent (30-79%)HP:0008209

Primary amenorrhea

Frequent (30-79%)HP:0000786

Streak ovary

Frequent (30-79%)HP:0010464

Underdeveloped uterus

Frequent (30-79%)HP:0000013

Absent deep tendon reflexes

Occasional (5-29%)HP:0001284

Ataxia

Occasional (5-29%)HP:0001251

Azoospermia

Occasional (5-29%)HP:0000027

Cleft of palate

Occasional (5-29%)HP:0000175

Corticospinal signs

Occasional (5-29%)HP:0007256

Disproportionate tall stature

Occasional (5-29%)HP:0001519

Heart shaped uterus

Occasional (5-29%)HP:0000813

High arched palate

Occasional (5-29%)HP:0000218

Hyporeflexia

Occasional (5-29%)HP:0001265

Light or infrequent menstrual periods

Occasional (5-29%)HP:0000876

No development of motor milestones

Occasional (5-29%)HP:0001270

Obesity

Occasional (5-29%)HP:0001513

Peripheral axonal neuropathy

Occasional (5-29%)HP:0003477

Previous menstrual periods stop

Occasional (5-29%)HP:0000869

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Spastic diparesis

Occasional (5-29%)HP:0001264

Specific learning disability

Occasional (5-29%)HP:0001328

Related Conditions

Congenital malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital sensorineural hearing loss(parent)

Mitochondrial cytopathy(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 93466004
UMLS CUI: C0685838
Fully Specified Name: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (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.