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Cohen syndrome

disorder
SNOMED 56604005CUI C0265223

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Autism spectrum disorder
Always present (100%)HP:0000729
Delayed ability to walk
Always present (100%)HP:0031936
Narrow palate
Always present (100%)HP:0000189
Pigmentary retinopathy
Always present (100%)HP:0000580
Prominent lips
Always present (100%)HP:0012471
Slender feet
Always present (100%)HP:0001786
Speech difficulties
Always present (100%)HP:0000750
Thick corpus callosum
Always present (100%)HP:0007074
Thick eyelashes
Always present (100%)HP:0011231
Truncal obesity
Always present (100%)HP:0001956
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of the eyelashes
Very frequent (80-99%)HP:0000499
Abnormality of the eyelids
Very frequent (80-99%)HP:0000492
Aplasia/Hypoplasia of the tongue
Very frequent (80-99%)HP:0010295
Arachnodactyly
Very frequent (80-99%)HP:0001166
Chorioretinal dystrophy
Very frequent (80-99%)HP:0001135
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dental agenesis
Very frequent (80-99%)HP:0009804
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Flattening of the zygomatic bone
Very frequent (80-99%)HP:0010669
Fundus with peripheral bony spicules
Very frequent (80-99%)HP:0007737
Gingival overgrowth
Very frequent (80-99%)HP:0000212
Increased length of eyelashes
Very frequent (80-99%)HP:0000527
Low anterior hairline
Very frequent (80-99%)HP:0000294
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Near sighted
Very frequent (80-99%)HP:0000545

Related Conditions

Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Recessive hereditary disorder (autosomal)(parent)
Developmental hereditary disorder(parent)
Genetic syndromic childhood obesity(parent)

Quick Facts

SNOMED CT
56604005
UMLS CUI
C0265223
Fully Specified Name
Cohen 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.