Overview
Distal deletion 7q36 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.
Abnormal calvaria morphology
Very frequent (80-99%)HP:0002683
Abnormality of immune system physiology
Very frequent (80-99%)HP:0010978
Bilateral single transverse palmar creases
Very frequent (80-99%)HP:0007598
Chubby cheeks
Very frequent (80-99%)HP:0000293
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Flat facial shape
Very frequent (80-99%)HP:0012368
Hypertonia
Very frequent (80-99%)HP:0001276
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Large facies
Very frequent (80-99%)HP:0100729
Mental retardation, borderline
Very frequent (80-99%)HP:0006889
Mongoloid slant
Very frequent (80-99%)HP:0000582
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Potato nose
Very frequent (80-99%)HP:0000414
Short neck
Very frequent (80-99%)HP:0000470
Cleft of palate
Frequent (30-79%)HP:0000175
Cryptorchidism
Frequent (30-79%)HP:0000028
Epilepsy
Frequent (30-79%)HP:0001250
Large mouth
Frequent (30-79%)HP:0000154
Large pinnae
Frequent (30-79%)HP:0000400
Non-midline cleft of the upper lip
Frequent (30-79%)HP:0100335
Single brain ventricle
Frequent (30-79%)HP:0001360
Squint
Frequent (30-79%)HP:0000486
Hernia
Occasional (5-29%)HP:0100790
Optic atrophy
Occasional (5-29%)HP:0000648
Pectus excavatum
Occasional (5-29%)HP:0000767
Permanent curving of the pinkie finger
Occasional (5-29%)HP:0004209
Wide-spaced nipples
Occasional (5-29%)HP:0006610
Quick Facts
- SNOMED CT
- 763529005
- UMLS CUI
- C4706504
- Fully Specified Name
- Distal monosomy 7q36 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.