Bosch Boonstra Schaaf optic atrophy syndrome

disorder

SNOMED 770723007CUI C3810363

Overview

Bosch Boonstra Schaaf 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.

Optic disc pallor

Very frequent (80-99%)HP:0000543

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Decreased visual acuity

Frequent (30-79%)HP:0007663

Dysmorphic facies

Frequent (30-79%)HP:0001999

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Optic atrophy

Frequent (30-79%)HP:0000648

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor school performance

Frequent (30-79%)HP:0001249

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Autism

Occasional (5-29%)HP:0000717

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Convex bridge of nose

Occasional (5-29%)HP:0000426

Cortical blindness

Occasional (5-29%)HP:0100704

Deafness

Occasional (5-29%)HP:0000365

Double ring sign

Occasional (5-29%)HP:0000609

Esotropia

Occasional (5-29%)HP:0000565

Helix abnormal

Occasional (5-29%)HP:0011039

Helix, Darwin tubercle

Occasional (5-29%)HP:0011261

High arched palate

Occasional (5-29%)HP:0000218

Hypoplastic optic discs

Occasional (5-29%)HP:0007766

Large mouth

Occasional (5-29%)HP:0000154

Mongoloid slant

Occasional (5-29%)HP:0000582

Nonverbal

Occasional (5-29%)HP:0001344

Nostrils anteverted

Occasional (5-29%)HP:0000463

OCD

Occasional (5-29%)HP:0000722

Outward facing eye ball

Occasional (5-29%)HP:0000577

Palpebronasal fold

Occasional (5-29%)HP:0000286

Partial loss of field of vision

Occasional (5-29%)HP:0001123

Related Conditions

Dominant hereditary optic atrophy(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770723007
UMLS CUI: C3810363
Fully Specified Name: Optic atrophy, intellectual disability 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.