Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome

disorder

SNOMED 721846006CUI C2676243

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.

Developmental regression

Always present (100%)HP:0002376

Delayed puberty

Very frequent (80-99%)HP:0000823

Missing between one and six teeth

Very frequent (80-99%)HP:0000668

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Cognitive delay

Frequent (30-79%)HP:0001263

Deglutition disorder

Frequent (30-79%)HP:0002015

Impaired smooth pursuit ocular movements

Frequent (30-79%)HP:0000617

Isolated hypogonadotropic hypogonadism

Frequent (30-79%)HP:0000044

Loss of ambulation

Frequent (30-79%)HP:0002505

Sialorrhea

Frequent (30-79%)HP:0002307

Tremor

Frequent (30-79%)HP:0001337

Vertical gaze palsy

Frequent (30-79%)HP:0000511

Epilepsy

Occasional (5-29%)HP:0001250

Gaze-evoked nystagmus

Occasional (5-29%)HP:0000640

Neuropathy

Occasional (5-29%)HP:0009830

Optic atrophy

Occasional (5-29%)HP:0000648

Ataxia

HP:0001251

Cerebral cortex atrophy

HP:0002120

CNS hypomyelination

HP:0003429

Decreased body height

HP:0004322

Difficulty articulating speech

HP:0001260

Dysmetria

HP:0001310

Dystonic movements

HP:0001332

Extensor plantar responses

HP:0003487

Hypoplasia of corpus callosum

HP:0002079

Increased reflexes

HP:0001347

Infratentorial atrophy

HP:0001272

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Leukodystrophy

HP:0002415

Missing more than six teeth

HP:0000677

Related Conditions

Partial congenital absence of teeth(parent)

4H leucodystrophy(parent)

Chronic disease of teeth AND/OR supporting structures(parent)

Chronic disorder of genitourinary system(parent)

Hereditary ataxia(parent)

Chronic brain syndrome(parent)

Cerebellar ataxia(parent)

Quick Facts

SNOMED CT: 721846006
UMLS CUI: C2676243
Fully Specified Name: Hypomyelination, hypogonadotropic hypogonadism, hypodontia 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.