Developmental delay, hypotonia, extremities hypertrophy syndrome

disorder

SNOMED 763186006CUI C2931551

Overview

Developmental delay, hypotonia, extremities hypertrophy 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.

Delayed language development

Very frequent (80-99%)HP:0000750

Dental problems

Very frequent (80-99%)HP:0000164

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Dry skin

Very frequent (80-99%)HP:0000958

Eczema

Very frequent (80-99%)HP:0000964

Epilepsy

Very frequent (80-99%)HP:0001250

Eye movement issue

Very frequent (80-99%)HP:0000496

Finger pointing in a different direction than usual

Very frequent (80-99%)HP:0004097

Grey sclerae

Very frequent (80-99%)HP:0000592

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Partial or complete agenesis of corpus callosum

Very frequent (80-99%)HP:0001338

Round facies

Very frequent (80-99%)HP:0000311

Short neck

Very frequent (80-99%)HP:0000470

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763186006
UMLS CUI: C2931551
Fully Specified Name: Grubben, De Cock, Borghgraef syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.