Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome

disorder

SNOMED 773398005CUI C4750835

Overview

Congenital cataract, progressive muscular hypotonia, hearing loss, 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.

Abnormal muscle fiber protein expression

Frequent (30-79%)HP:0030089

Congenital cataracts, bilateral

Frequent (30-79%)HP:0000519

Decreased circulating ferritin concentration

Frequent (30-79%)HP:0012343

Diminished deep tendon reflexes

Frequent (30-79%)HP:0001315

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Lacticacidosis

Frequent (30-79%)HP:0003128

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Progressive bilateral sensorineural hearing loss

Frequent (30-79%)HP:0000408

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Rotary nystagmus

Frequent (30-79%)HP:0001583

Truncal hypotonia

Frequent (30-79%)HP:0008936

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital cataract(parent)

Mitochondrial myopathy(parent)

Developmental delay(parent)

Congenital sensorineural hearing loss(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 773398005
UMLS CUI: C4750835
Fully Specified Name: Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.