Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome

disorder

SNOMED 773419004CUI C4750851

Overview

Severe intellectual disability, short stature, behavioural abnormalities, 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Malformation of face

Very frequent (80-99%)HP:0001999

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Behavioural disorders

Frequent (30-79%)HP:0000708

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased body height

Frequent (30-79%)HP:0004322

Kyphoscoliosis

Frequent (30-79%)HP:0002751

physical aggression

Frequent (30-79%)HP:0000718

Repetitive behaviour Stereotypic behaviour

Frequent (30-79%)HP:0000733

Speech difficulties

Frequent (30-79%)HP:0000750

Trouble sleeping

Frequent (30-79%)HP:0002360

Absolute lymphocyte count decrease

Occasional (5-29%)HP:0001888

Cortical white matter abnormalities seen on MRI

Occasional (5-29%)HP:0002500

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Deep set eye

Occasional (5-29%)HP:0000490

Delayed relaxation of muscle fibres after contraction

Occasional (5-29%)HP:0002486

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Irritability

Occasional (5-29%)HP:0000737

Large ears

Occasional (5-29%)HP:0000400

Moderate mental retardation

Occasional (5-29%)HP:0002342

Nasal hypertrophy

Occasional (5-29%)HP:0000448

partial or complete syndactyly 2nd-3rd toes

Occasional (5-29%)HP:0004691

Premature menopause

Occasional (5-29%)HP:0008209

Sloping forehead

Occasional (5-29%)HP:0000340

Squint

Occasional (5-29%)HP:0000486

Tooth abnormalities

Occasional (5-29%)HP:0000164

Unibrow

Occasional (5-29%)HP:0000664

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Small stature(parent)

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

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773419004
UMLS CUI: C4750851
Fully Specified Name: Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.