Genetics
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
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Genetics syndromes
28
Genetics
Bannayan–Riley–Ruvalcaba syndrome
PTEN hamartoma tumor syndrome of childhood.
Genetics Beals syndrome
Contractures with arachnodactyly and crumpled ears.
Genetics Borjeson–Forssman–Lehmann syndrome
X-linked intellectual disability with obesity and hypogonadism.
Genetics Coffin–Siris syndrome
Hypoplastic fifth digit nails with coarse facies and intellectual disability.
Genetics Ehlers–Danlos syndrome, vascular type
Vascular fragility with arterial, uterine and bowel rupture.
Genetics Emanuel syndrome
Derivative chromosome 22 syndrome from 11;22 translocation.
Genetics Hartnup syndrome
Neutral aminoaciduria with pellagra-like rash.
Genetics Hurler–Scheie syndrome
Intermediate MPS I.
Genetics Kleefstra syndrome
Intellectual disability with hypotonia and distinctive facial features.
Genetics Langer–Giedion syndrome
Deletion of 8q24.1 with multiple exostoses and sparse hair.
Genetics Lujan–Fryns syndrome
X-linked intellectual disability with marfanoid habitus.
Genetics Menkes syndrome
X-linked copper transport disorder with kinky hair and neurodegeneration.
Genetics Miller–Dieker syndrome
Lissencephaly with characteristic facies from 17p13.3 deletion.
Genetics Mosaic trisomy 8 syndrome
Mosaic trisomy 8 with deep palmar creases and joint limitation.
Genetics Mowat–Wilson syndrome
Intellectual disability with Hirschsprung disease and characteristic facies.
Genetics Nicolaides–Baraitser syndrome
Severe intellectual disability with sparse hair and prominent interphalangeal joints.
Genetics Opitz–Kaveggia syndrome
X-linked intellectual disability with macrocephaly and imperforate anus.
Genetics Pallister–Killian syndrome
Tissue-limited tetrasomy 12p with coarse facies and hypopigmentation.
Genetics Pitt–Hopkins syndrome
Severe intellectual disability with episodic hyperventilation.
Genetics Potocki–Lupski syndrome
Reciprocal duplication of the Smith–Magenis region.
Genetics Potocki–Shaffer syndrome
Contiguous deletion causing multiple exostoses and parietal foramina.
Genetics Sensenbrenner syndrome
Ciliopathy with craniosynostosis, ectodermal anomalies and nephronophthisis.
Genetics Transient neonatal diabetes syndrome
Neonatal diabetes from overexpression at 6q24.
Genetics Triple X syndrome
Female with an extra X chromosome, often mild.