Global Variome shared LOVD

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Phenotype #0000015038 Individual ID 00016436 Associated disease IMAGE Phenotype details possible adrenal hypoplasia, adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003027; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); osteopenia (HP:0000938); cryptorchidism Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Eamonn Maher Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-04-22 16:20:03 +02:00 (CEST) Date last edited 2020-04-07 12:21:50 +02:00 (CEST)

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