Global Variome shared LOVD

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Phenotype #0000128956 Individual ID 00163842 Associated disease C1SD Phenotype details Dandy-Walker malformation (HP:0001305), molar-tooth sign (HP:0002419), developmental delay (HP:0001263), microcephaly (HP:0000252), cleft upper lip (HP:0000204), natal tooth (HP:0000695), hamartoma of tongue (HP:0011802), microretrognathia (HP:0000308), postaxial polydactyly (HP:0100259), cryptorchidism (HP:0000028), patent ductus arteriosis (HP:0001643); retinal coloboma (HP:0000480), hypotonia (HP:0001290) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Orofaciodigital syndrome type 14 Age/Examination - Age/Diagnosis - Age/Onset <00y Phenotype/Onset <0y Protein - Owner name Nicole Boczek Database submission license No license selected Created by Nicole Boczek Date created 2018-04-17 22:49:13 +02:00 (CEST) Date last edited 2018-05-04 15:13:23 +02:00 (CEST)

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