Global Variome shared LOVD

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Phenotype #0000342079 Individual ID 00453416 Associated disease KCS2 Phenotype details Abnormality of the face, high hypermetropia, astigmatism, fully accommodative esotropia, short stature, dolichocephaly, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, delayed skeletal maturation, hypermelanotic macule, sparse scalp hair, sparse eyebrows, nail dysplasia, high pitched voice, nasal speech, micropenis, cryptorchidism, anemia, thrombocytosis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Frederike Leonie Harms Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Frederike Leonie Harms Date created 2024-08-23 08:18:56 +02:00 (CEST) Date last edited 2024-08-23 10:15:06 +02:00 (CEST)

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