Microcephalus microcornea syndrome of Seemanova type

disorder

SNOMED 715464002CUI C2931524

Overview

Microcephalus microcornea syndrome of Seemanova type 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.

Cataract

Very frequent (80-99%)HP:0000518

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased corneal diameter

Very frequent (80-99%)HP:0000482

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased size of eyeball

Very frequent (80-99%)HP:0000568

High arched palate

Very frequent (80-99%)HP:0000218

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Mongoloid slant

Very frequent (80-99%)HP:0000582

Narrow mouth

Very frequent (80-99%)HP:0000160

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Retrognathia

Very frequent (80-99%)HP:0000278

Spasticity, progressive

Very frequent (80-99%)HP:0002191

Very poor growth

Very frequent (80-99%)HP:0001510

Wide cranium shape

Very frequent (80-99%)HP:0000248

Related Conditions

Microcornea(parent)

X-linked hereditary disease(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 715464002
UMLS CUI: C2931524
Fully Specified Name: Microcephalus microcornea syndrome of Seemanova type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.