Johnson McMillin syndrome

disorder

SNOMED 721584005CUI C0796002

Overview

Johnson McMillin 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.

Absent auditory canals

Very frequent (80-99%)HP:0000413

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased hair growth

Very frequent (80-99%)HP:0008070

Hair loss

Very frequent (80-99%)HP:0001596

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Absent eyebrows

Frequent (30-79%)HP:0002223

Aplasia of eyelashes

Frequent (30-79%)HP:0000561

Facial palsy

Frequent (30-79%)HP:0010628

Low intelligence

Frequent (30-79%)HP:0001249

Microtia

Frequent (30-79%)HP:0008551

Prominent ear

Frequent (30-79%)HP:0000411

Rotting teeth

Frequent (30-79%)HP:0000670

Short stature, severe

Frequent (30-79%)HP:0003510

Unbalanced face

Frequent (30-79%)HP:0000324

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Choanal atresia

Occasional (5-29%)HP:0000453

Cleft of palate

Occasional (5-29%)HP:0000175

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased sweating

Occasional (5-29%)HP:0000966

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Lost smell

Occasional (5-29%)HP:0000458

Multiple flat light-brown marks on skin

Occasional (5-29%)HP:0007565

Polydactyly of the hand

Occasional (5-29%)HP:0001161

Preaxial hand polydactyly

Occasional (5-29%)HP:0001177

Protruding lower lip

Occasional (5-29%)HP:0000232

Tetrology of fallot

Occasional (5-29%)HP:0001636

Undergrowth

Occasional (5-29%)HP:0001508

Related Conditions

Ectodermal dysplasia(parent)

Autosomal dominant hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Hereditary disorder of the integument(parent)

Congenital conductive hearing loss(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721584005
UMLS CUI: C0796002
Fully Specified Name: Johnson neuroectodermal syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.