Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Brachydactyly
Very frequent (80-99%)HP:0001156
Camptodactyly
Very frequent (80-99%)HP:0012385
Central hypotonia
Very frequent (80-99%)HP:0001252
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Congenital hypotonia
Very frequent (80-99%)HP:0001319
Deafness
Very frequent (80-99%)HP:0000365
Deep set eye
Very frequent (80-99%)HP:0000490
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Gait disturbance
Very frequent (80-99%)HP:0001288
Hypoplastic/small little finger
Very frequent (80-99%)HP:0009237
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Lack of eyebrow curvature
Very frequent (80-99%)HP:0011228
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental deficiency
Very frequent (80-99%)HP:0001249
No speech development
Very frequent (80-99%)HP:0001344
Poor speech
Very frequent (80-99%)HP:0002465
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Small feet
Very frequent (80-99%)HP:0001773
Small midface
Very frequent (80-99%)HP:0011800
Small pointed chin
Very frequent (80-99%)HP:0000307
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the eyebrow
Frequent (30-79%)HP:0000534
Abnormality of vision
Frequent (30-79%)HP:0000504
Asymmetric ears
Frequent (30-79%)HP:0010722
Atria septal defect
Frequent (30-79%)HP:0001631
Related Conditions
Quick Facts
- SNOMED CT
- 699306003
- UMLS CUI
- C1842870
- Fully Specified Name
- Chromosome 1p36 deletion 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.