Global Variome shared LOVD

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Phenotype #0000342078 Individual ID 00453415 Associated disease KCS2 Phenotype details Abnormality of the face, microdontia of primary teeth, high hypermetropia, astigmatism, fully accommodative esotropia, strabismus, short stature, relative macrocephaly, pectus carinatum, thoracic scoliosis, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, slender long bones, delayed skeletal maturation, thin skin, sparse scalp hair, sparse eyebrows, nail dysplasia,high pitched voice, hypernasal speech, pulmonary hypoplasia, anemia, thrombocytosis, reduced circulating growth hormone concentration, decreased response to growth hormone stimulation test 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 08:11:00 +02:00 (CEST) Date last edited 2024-08-23 10:13:41 +02:00 (CEST)

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