Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

disorder

SNOMED 1177167002CUI C4539927

Overview

Intellectual disability, seizures, abnormal gait, 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.

Cognitive delay

Always present (100%)HP:0001263

Increased height of lower lip vermilion

Always present (100%)HP:0000179

Drooping upper lip

Very frequent (80-99%)HP:0010803

Epilepsy

Very frequent (80-99%)HP:0001250

Full upper lip

Very frequent (80-99%)HP:0000215

Happy demeanour

Very frequent (80-99%)HP:0040082

Hypertrophy of cheeks

Very frequent (80-99%)HP:0000293

Hypertrophy of maxilla

Very frequent (80-99%)HP:0430028

Mental-retardation

Very frequent (80-99%)HP:0001249

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Wide-spaced teeth

Very frequent (80-99%)HP:0000687

Abnormality of the gingiva

Frequent (30-79%)HP:0000168

Absent cupid's bow

Frequent (30-79%)HP:0010800

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Broad, upturned nose

Frequent (30-79%)HP:0000455

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Delayed ability to sit

Frequent (30-79%)HP:0025336

Delayed ability to walk

Frequent (30-79%)HP:0031936

Delayed loss of deciduous teeth

Frequent (30-79%)HP:0006335

Depressed nasal root/bridge

Frequent (30-79%)HP:0005280

Feeding difficulties

Frequent (30-79%)HP:0011968

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Generalized non-motor (absence) seizure

Frequent (30-79%)HP:0002121

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Globe elongated

Frequent (30-79%)HP:0007800

Hyperplasia of nasal tip

Frequent (30-79%)HP:0005274

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Large eyes

Frequent (30-79%)HP:0001090

Large mouth

Frequent (30-79%)HP:0000154

Related Conditions

Global developmental delay(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1177167002
UMLS CUI: C4539927
Fully Specified Name: Intellectual disability, seizures, abnormal gait, 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.