Cortical blindness, intellectual disability, polydactyly syndrome

disorder

SNOMED 732251003CUI C4517339

Overview

Cortical blindness, intellectual disability, polydactyly 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 palate morphology

Very frequent (80-99%)HP:0000174

Abnormal visual evoked responses

Very frequent (80-99%)HP:0000649

Cachexia

Very frequent (80-99%)HP:0004326

Cortical blindness

Very frequent (80-99%)HP:0100704

Decreased body height

Very frequent (80-99%)HP:0004322

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Mental-retardation

Very frequent (80-99%)HP:0001249

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Protruding forehead

Very frequent (80-99%)HP:0011220

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Retromicrognathia

Very frequent (80-99%)HP:0000308

Increased reflexes

Frequent (30-79%)HP:0001347

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Related Conditions

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

Cortical blindness(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Accessory digit(parent)

Disorder of visual pathways(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 732251003
UMLS CUI: C4517339
Fully Specified Name: Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.