Phenotypes for disease #00087 (MALNS;SOTOS2 (Malan syndrome (previously SOTOS2)), OMIM:614753)

4 entries on 1 page. Showing entries 1 - 4.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000015022 - Isolated (sporadic) >22y - - - - postnatal overgrowth, macrocephaly, obesity, speech delay and advanced carpal ossification; craniofacial abnormalities including macrocephaly, long face, slightly down-slanting palpebral fissures, pointed chin - Eric Pasmant 00016422
0000015024 - Isolated (sporadic) 14y - - - - postnatal overgrowth, macrocephaly, obesity, speech delay and advanced carpal ossification; craniofacial abnormalities including long face and macrocephaly - Eric Pasmant 00016425
0000295571 collagenopathy Familial, autosomal dominant 13y SOTOS2 - - Exotropia (HP:0000577) Exotropia, severe intellectual disability, tall stature, pectus excavatum, arachnodactyly, dolichostenomelia, dolichocephaly, deeply set eye, tooth malposition. - Miriam Erandi Reyna-Fabián 00402809
0000325458 - Isolated (sporadic) 02y - - - - Macrocephaly, Global developmental delay, Short stature, Neurodevelopmental delay, Hypotonia - Andreas Laner 00435261
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