Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

disorder

SNOMED 1172593006CUI C5567454

Overview

Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic 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.

Mental deficiency

Always present (100%)HP:0001249

Spasticity of lower limb

Always present (100%)HP:0002061

Speech and language difficulties

Always present (100%)HP:0000750

Brisk deep tendon reflexes

Very frequent (80-99%)HP:0001348

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Epilepsy

Very frequent (80-99%)HP:0001250

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Muscle weakness

Very frequent (80-99%)HP:0001324

Neurogenic muscle atrophy, especially in the lower limbs

Very frequent (80-99%)HP:0003202

Retarded growth

Very frequent (80-99%)HP:0001510

Upper extremity spasticity

Very frequent (80-99%)HP:0006986

Absent smooth pursuit

Frequent (30-79%)HP:0007179

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Cerebral hypomyelination

Frequent (30-79%)HP:0006808

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased size of cranium

Frequent (30-79%)HP:0000252

Difficulty speaking

Frequent (30-79%)HP:0002465

Dyschezia

Frequent (30-79%)HP:0002019

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to walk

Frequent (30-79%)HP:0002540

IQ less than 20

Frequent (30-79%)HP:0002187

Muscular hypotonia

Frequent (30-79%)HP:0001252

No speech development

Frequent (30-79%)HP:0001344

Optic atrophy

Frequent (30-79%)HP:0000648

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Quadriplegia

Frequent (30-79%)HP:0002445

Related Conditions

Developmental delay(parent)

Hereditary optic atrophy(parent)

Developmental hereditary disorder(parent)

Epilepsy(parent)

Recessive hereditary disorder (autosomal)(parent)

Diffuse atrophy of cerebrum(parent)

Quick Facts

SNOMED CT: 1172593006
UMLS CUI: C5567454
Fully Specified Name: Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic 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.