Bindewald Ulmer Muller syndrome

disorder

SNOMED 723336008CUI C1832735

Overview

Bindewald Ulmer Muller 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.

IQ less than 20

Very frequent (80-99%)HP:0002187

Prominent ear

Very frequent (80-99%)HP:0000411

Severe weight faltering

Very frequent (80-99%)HP:0001525

Atria septal defect

Frequent (30-79%)HP:0001631

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Double-outlet right ventricle

Frequent (30-79%)HP:0001719

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Global developmental delay, severe

Frequent (30-79%)HP:0011344

High arched palate

Frequent (30-79%)HP:0000218

Hirsute forehead

Frequent (30-79%)HP:0011335

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Large pinnae

Frequent (30-79%)HP:0000400

partial or complete syndactyly 2nd-3rd toes

Frequent (30-79%)HP:0004691

Pulmonary stenosis

Frequent (30-79%)HP:0001642

Single flexion crease

Frequent (30-79%)HP:0000954

Tetrology of fallot

Frequent (30-79%)HP:0001636

Arc de cercle

Occasional (5-29%)HP:0002179

Blue discoloration of the skin

Occasional (5-29%)HP:0000961

Clubbing of fingers

Occasional (5-29%)HP:0100759

Clubbing of toes

Occasional (5-29%)HP:0100760

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Dextroposition of aorta

Occasional (5-29%)HP:0002623

High forehead

Occasional (5-29%)HP:0000348

Hypertonia

Occasional (5-29%)HP:0001276

Hypotrophic nasal tip

Occasional (5-29%)HP:0005278

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased width of bridge of nose

Occasional (5-29%)HP:0000431

PDA

Occasional (5-29%)HP:0001643

PLSVC

Occasional (5-29%)HP:0005301

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Tetralogy of Fallot(parent)

Cardiovascular system hereditary disorder(parent)

Growth retardation(parent)

Multiple system malformation syndrome(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 723336008
UMLS CUI: C1832735
Fully Specified Name: Fallot complex with intellectual disability and growth delay 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.