Intellectual disability, cataract, calcified pinna, myopathy syndrome

disorder

SNOMED 726709001CUI C0796121

Overview

Intellectual disability, cataract, calcified pinna, myopathy 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 language development

Always present (100%)HP:0000750

Psychomotor development deficiency

Always present (100%)HP:0001263

Serum alpha-fetoprotein increased

Always present (100%)HP:0006254

Abnormal palate morphology

Very frequent (80-99%)HP:0000174

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Bone cyst

Very frequent (80-99%)HP:0012062

Breakdown of bone

Very frequent (80-99%)HP:0002797

Cataract

Very frequent (80-99%)HP:0000518

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Deep set eye

Very frequent (80-99%)HP:0000490

Distal muscle atrophy, upper and lower limbs

Very frequent (80-99%)HP:0003693

Flexion contractures

Very frequent (80-99%)HP:0001371

Gait disturbance

Very frequent (80-99%)HP:0001288

Hearing impairment

Very frequent (80-99%)HP:0000365

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hunched back

Very frequent (80-99%)HP:0002808

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Large pinnae

Very frequent (80-99%)HP:0000400

Low intelligence

Very frequent (80-99%)HP:0001249

Myopathy

Very frequent (80-99%)HP:0003198

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Ossification of pinnae

Very frequent (80-99%)HP:0005103

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Posterior vertebral body scalloping

Very frequent (80-99%)HP:0005121

Psychomotor regression

Very frequent (80-99%)HP:0002376

Sparse body hair

Very frequent (80-99%)HP:0002231

vertebral endplate irregularity

Very frequent (80-99%)HP:0003301

Anonychia

Frequent (30-79%)HP:0001798

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Disease of skeletal muscle(parent)

Congenital cataract(parent)

Pinnal calcification(parent)

Auditory system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of the visual system(parent)

Congenital abnormality of external ear(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 726709001
UMLS CUI: C0796121
Fully Specified Name: Intellectual disability, cataract, calcified pinna, myopathy 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.