Global Variome shared LOVD

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Phenotype #0000015001 Individual ID 00004129 Associated disease CSS Diagnosis/Initial - Diagnosis/Definite CSS Phenotype details mild developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, sparse scalp hair; everted lower lip, abnormal ears; absent/hypoplastic fifth phalanx (hand), absent/hypoplastic fifth phalanx (foot), clinodactyly, short stature; hypogonadotrophic hypogonadism, bilateral malrotated kidneys; retardation prenatal; highly arched eyebrow (HP:0002553);; Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2014-04-03 12:17:51 +02:00 (CEST) Date last edited 2020-07-26 12:38:06 +02:00 (CEST)

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