Intellectual disability, seizures, macrocephaly, obesity syndrome

disorder

SNOMED 770750002CUI C4749455

Overview

Intellectual disability, seizures, macrocephaly, obesity 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 curving of the cornea or lens of the eye

Very frequent (80-99%)HP:0000483

Abnormality of the pineal gland

Very frequent (80-99%)HP:0012680

Cognitive delay

Very frequent (80-99%)HP:0001263

Constipation

Very frequent (80-99%)HP:0002019

Deafness

Very frequent (80-99%)HP:0000365

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Eczema

Very frequent (80-99%)HP:0000964

Enuresis

Very frequent (80-99%)HP:0000805

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Foot deformity

Very frequent (80-99%)HP:0001760

Fullness around the eyes

Very frequent (80-99%)HP:0000629

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Hemiparesis

Very frequent (80-99%)HP:0001269

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Intolerance to heat and fevers

Very frequent (80-99%)HP:0002046

Large head

Very frequent (80-99%)HP:0000256

Lingual hyperplasia

Very frequent (80-99%)HP:0000158

Misshapened teeth

Very frequent (80-99%)HP:0006482

Mitral valve prolapse

Very frequent (80-99%)HP:0001634

Narrow, high-arched roof of mouth

Very frequent (80-99%)HP:0002705

Obesity

Very frequent (80-99%)HP:0001513

Outward facing eye ball

Very frequent (80-99%)HP:0000577

Poor school performance

Very frequent (80-99%)HP:0001249

Round, full face

Very frequent (80-99%)HP:0000311

Seizures

Very frequent (80-99%)HP:0001250

Speech delay

Very frequent (80-99%)HP:0000750

Squint

Very frequent (80-99%)HP:0000486

Tongue thrusting

Very frequent (80-99%)HP:0100703

Undergrowth

Very frequent (80-99%)HP:0001508

Related Conditions

Anomaly of chromosome X(parent)

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

Congenital macrocephaly(parent)

Genetic intellectual disability(parent)

Genetic syndromic childhood obesity(parent)

Quick Facts

SNOMED CT: 770750002
UMLS CUI: C4749455
Fully Specified Name: Intellectual disability, seizures, macrocephaly, obesity 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.