Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome

disorder

SNOMED 763350002CUI C4706414

Overview

Intellectual disability, obesity, brain malformation, facial dysmorphism 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.

Abnormal brain morphology

Very frequent (80-99%)HP:0012443

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Cognitive delay

Very frequent (80-99%)HP:0001263

Congenital hypothyroidism

Very frequent (80-99%)HP:0000851

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Funny looking face

Very frequent (80-99%)HP:0001999

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Large fleshy ears

Very frequent (80-99%)HP:0002265

Malignant hyperthermia

Very frequent (80-99%)HP:0002047

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Multifocal cerebral white matter abnormalities

Very frequent (80-99%)HP:0007052

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Narrow forehead

Very frequent (80-99%)HP:0000341

Obesity

Very frequent (80-99%)HP:0001513

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Round, full face

Very frequent (80-99%)HP:0000311

Short and broad skull

Very frequent (80-99%)HP:0000248

Small cerebellum

Very frequent (80-99%)HP:0001321

Static congenital hemeralopia

Very frequent (80-99%)HP:0007642

Tapering fingers

Very frequent (80-99%)HP:0001182

Underdeveloped brows

Very frequent (80-99%)HP:0009891

Unibrow

Very frequent (80-99%)HP:0000664

Dysplastic ears

Frequent (30-79%)HP:0000377

Epilepsy

Frequent (30-79%)HP:0001250

Lack of eyebrow curvature

Frequent (30-79%)HP:0011228

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Related Conditions

Congenital anomaly of brain(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763350002
UMLS CUI: C4706414
Fully Specified Name: Intellectual disability, obesity, brain malformation, facial dysmorphism 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.