Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome

disorder

SNOMED 1217381009CUI C4540520

Overview

Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy 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.

Central hypotonia

Always present (100%)HP:0001252

Psychomotor development deficiency

Always present (100%)HP:0001263

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Epilepsy

Very frequent (80-99%)HP:0001250

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Broad, upturned nose

Frequent (30-79%)HP:0000455

Bulging forehead

Frequent (30-79%)HP:0011220

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Delayed language development

Frequent (30-79%)HP:0000750

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Mental retardation, mild

Frequent (30-79%)HP:0001256

Myoclonic seizure

Frequent (30-79%)HP:0032794

Narrow forehead

Frequent (30-79%)HP:0000341

Near sighted

Frequent (30-79%)HP:0000545

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Nostrils anteverted

Frequent (30-79%)HP:0000463

Osteopenia

Frequent (30-79%)HP:0000938

Osteoporosis

Frequent (30-79%)HP:0000939

Small cerebellum

Frequent (30-79%)HP:0001321

Standing instability

Frequent (30-79%)HP:0003698

Tremor

Frequent (30-79%)HP:0001337

Related Conditions

Seizure disorder(parent)

Global developmental delay(parent)

Osteopenia(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of the visual system(parent)

Nystagmus(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Hereditary cerebellar atrophy(parent)

Quick Facts

SNOMED CT: 1217381009
UMLS CUI: C4540520
Fully Specified Name: Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy 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.