Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome

disorder

SNOMED 1217371005CUI C4748715

Overview

Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay 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.

Delayed ability to walk

Always present (100%)HP:0031936

Autism spectrum disorder

Very frequent (80-99%)HP:0000729

Autoagression

Very frequent (80-99%)HP:0100716

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Hypotonia, early

Very frequent (80-99%)HP:0008947

No speech development

Very frequent (80-99%)HP:0001344

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Abnormal visual behaviour for age

Frequent (30-79%)HP:0025152

Esotropia

Frequent (30-79%)HP:0000565

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Hyperkinetic movements

Frequent (30-79%)HP:0002487

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Mental deficiency

Frequent (30-79%)HP:0001249

Poor eye contact

Frequent (30-79%)HP:0000817

Repetitive compulsive behaviour

Frequent (30-79%)HP:0008762

Squint

Frequent (30-79%)HP:0000486

Stimming

Frequent (30-79%)HP:0000733

Trouble sleeping

Frequent (30-79%)HP:0002360

Vomiting

Frequent (30-79%)HP:0002013

Abnormal location of eyebrows

Occasional (5-29%)HP:0040296

Almond shaped eyes

Occasional (5-29%)HP:0007874

Anxiety disease

Occasional (5-29%)HP:0000739

Ataxia

Occasional (5-29%)HP:0001251

Athetoid cerebral palsy

Occasional (5-29%)HP:0011445

Atria septal defect

Occasional (5-29%)HP:0001631

Ballismus

Occasional (5-29%)HP:0100248

Bilateral clubfeet

Occasional (5-29%)HP:0001776

Brachyturricephaly

Occasional (5-29%)HP:0000244

Central apnoea

Occasional (5-29%)HP:0002871

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital anomaly of visual system(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Movement disorder(parent)

Disease of skeletal muscle(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1217371005
UMLS CUI: C4748715
Fully Specified Name: Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay 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.