Diabetes, hypogonadism, deafness, intellectual disability syndrome

disorder

SNOMED 816067005CUI C0342286

Overview

Diabetes, hypogonadism, deafness, intellectual disability syndrome 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.

Azoospermia

Always present (100%)HP:0000027

Infertility

Always present (100%)HP:0000789

Involuntary closure of eyelid

Always present (100%)HP:0000643

Isolated hypogonadotropic hypogonadism

Always present (100%)HP:0000044

Nonverbal

Always present (100%)HP:0001344

Primary amenorrhea

Always present (100%)HP:0000786

Type I diabetes mellitus

Always present (100%)HP:0100651

Abnormal sperm development

Very frequent (80-99%)HP:0008669

Bilateral nerve deafness

Very frequent (80-99%)HP:0008619

Choreoathetoid movements

Very frequent (80-99%)HP:0001266

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased response to growth hormone stimulation test

Very frequent (80-99%)HP:0000824

Decreased serum estradiol

Very frequent (80-99%)HP:0008214

Decreased testicular size

Very frequent (80-99%)HP:0008734

Delayed puberty

Very frequent (80-99%)HP:0000823

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Dystonic movements

Very frequent (80-99%)HP:0001332

EKG: T-wave abnormalities

Very frequent (80-99%)HP:0005135

Hair loss

Very frequent (80-99%)HP:0001596

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Hyperlipidemia

Very frequent (80-99%)HP:0003077

Hypoplasia of the fallopian tube

Very frequent (80-99%)HP:0008697

Hypothyroidism

Very frequent (80-99%)HP:0000821

Insulin-resistant diabetes

Very frequent (80-99%)HP:0000831

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Osteopenia

Very frequent (80-99%)HP:0000938

Poor growth

Very frequent (80-99%)HP:0001510

Premature menopause

Very frequent (80-99%)HP:0008209

Related Conditions

Alopecia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of nervous system(parent)

Reproductive system hereditary disorder(parent)

Primary hypogonadism(parent)

Diabetes mellitus associated with genetic syndrome(parent)

Extrapyramidal disease(parent)

Hereditary disorder of endocrine system(parent)

Developmental hereditary disorder(parent)

Central nervous system complication(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 816067005
UMLS CUI: C0342286
Fully Specified Name: Diabetes, hypogonadism, deafness, intellectual disability 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.