Maternal uniparental disomy of chromosome 7

disorder

SNOMED 1003395004CUI C5400127

Overview

Maternal uniparental disomy of chromosome 7 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.

Frontal protuberance

Always present (100%)HP:0002007

Permanent curving of the pinkie finger

Always present (100%)HP:0004209

Relatively large head

Always present (100%)HP:0004482

Decreased body height

Very frequent (80-99%)HP:0004322

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Inverted triangular face

Very frequent (80-99%)HP:0000325

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Delayed skeletal development

Frequent (30-79%)HP:0002750

Global developmental delay, mild

Frequent (30-79%)HP:0011342

Grey sclerae

Frequent (30-79%)HP:0000592

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Persistent anterior fontanelle

Frequent (30-79%)HP:0001476

Profuse sweating

Frequent (30-79%)HP:0000975

Thin skin

Frequent (30-79%)HP:0000963

Neonatal hypoglycemia

Occasional (5-29%)HP:0001998

partial or complete syndactyly 2nd-3rd toes

Occasional (5-29%)HP:0004691

Related Conditions

Anomaly of chromosome pair 7(parent)

Uniparental disomy of maternal origin(parent)

Quick Facts

SNOMED CT: 1003395004
UMLS CUI: C5400127
Fully Specified Name: Maternal uniparental disomy of chromosome 7 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.