Walker-Warburg congenital muscular dystrophy

disorder

SNOMED 111504002CUI C0265221

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Agyria diffuse

Always present (100%)HP:0031882

Cobblestone lissencephaly

Always present (100%)HP:0007260

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Feeding difficulties in infancy

Always present (100%)HP:0008872

Hypoplasia of the brainstem

Always present (100%)HP:0002365

Hypotonia, in neonatal onset

Always present (100%)HP:0001319

Mask-like facies

Always present (100%)HP:0000298

Meningoencephalocele

Always present (100%)HP:0006888

No speech development

Always present (100%)HP:0001344

Abnormal circulating aldolase concentration

Very frequent (80-99%)HP:0012400

Abnormal circulating LDH concentration

Very frequent (80-99%)HP:0045040

Abnormal cortical gyration

Very frequent (80-99%)HP:0002536

Abnormal levels of creatine kinase in blood

Very frequent (80-99%)HP:0040081

Abnormality of neuronal migration

Very frequent (80-99%)HP:0002269

Abnormality of the cerebellar vermis

Very frequent (80-99%)HP:0002334

Absent/small skeletal muscles

Very frequent (80-99%)HP:0001460

Areflexia

Very frequent (80-99%)HP:0001284

Breakdown of light-sensitive cells in back of eye

Very frequent (80-99%)HP:0000556

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Chorioretinal dysplasia

Very frequent (80-99%)HP:0007731

Congenital muscular dystrophy

Very frequent (80-99%)HP:0003560

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Dull intelligence

Very frequent (80-99%)HP:0001249

Fewer or absent grooves in brain

Very frequent (80-99%)HP:0001339

Hyporeflexia

Very frequent (80-99%)HP:0001265

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Metatarsus valgus

Very frequent (80-99%)HP:0010508

Muscle atrophy, neurogenic

Very frequent (80-99%)HP:0003202

Muscle weakness

Very frequent (80-99%)HP:0001324

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Related Conditions

Combined malformation of central nervous system and skeletal muscle(parent)

Hereditary disorder of nervous system(parent)

Type 2 lissencephaly(parent)

Recessive hereditary disorder (autosomal)(parent)

Chronic brain syndrome(parent)

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 111504002
UMLS CUI: C0265221
Fully Specified Name: Walker-Warburg congenital muscular dystrophy (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.