Global Variome shared LOVD

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Phenotype #0000237146 Individual ID 00311897 Associated disease RRS Phenotype details height <3%; macrocephaly, frontal bossing, hypertelorism, upslanting palpebral fissures, prominent eyes, anteverted nares, depressed nasal bridge, short nose, gingival hyperplasia, cleft soft palate, dental anomalies, micrognathia, mesomelia, brachydactyly, clinodactyly, no bifid phalanges, scoliosis or kyphosis, pectus anomaly, increased bone density (skull), no hearing loss; sacral dimple, dimple between scrotum and anus; absent anterior nasal spine Diagnosis/Initial Robinow syndrome Inheritance Isolated (sporadic) Diagnosis/Definite DRS2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-30 09:24:57 +02:00 (CEST) Date last edited N/A

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