Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome

disorder

SNOMED 1254652005CUI C4225354

Overview

Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Congenital hypotonia

Very frequent (80-99%)HP:0001319

Delayed ability to walk

Very frequent (80-99%)HP:0031936

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Large head

Very frequent (80-99%)HP:0000256

Speech difficulties

Very frequent (80-99%)HP:0000750

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormal temper tantrums

Frequent (30-79%)HP:0025160

Aggression

Frequent (30-79%)HP:0000718

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Deformity of face

Frequent (30-79%)HP:0001999

Intolerance to frustration

Frequent (30-79%)HP:0000744

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Nonverbal

Frequent (30-79%)HP:0001344

Problems speaking

Frequent (30-79%)HP:0002465

Stimming

Frequent (30-79%)HP:0000733

Unsteady walk

Frequent (30-79%)HP:0002317

Abnormality of the cerebral white matter

Occasional (5-29%)HP:0002500

Ataxia

Occasional (5-29%)HP:0001251

Bulging forehead

Occasional (5-29%)HP:0011220

Cardiac anomaly

Occasional (5-29%)HP:0001627

Corpus callosum abnormality

Occasional (5-29%)HP:0001273

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Fluid-filled sac located in membrane surrounding brain or spinal cord

Occasional (5-29%)HP:0100702

Hypotrophic midface

Occasional (5-29%)HP:0011800

Inverted triangular face

Occasional (5-29%)HP:0000325

Large cavum septi pellucidi

Occasional (5-29%)HP:0002389

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital macrocephaly(parent)

Global developmental delay(parent)

Pervasive developmental disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

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

Disease of skeletal muscle(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1254652005
UMLS CUI: C4225354
Fully Specified Name: Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities 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.