Global Variome shared LOVD

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Phenotype #0000227559 Individual ID 00300258 Associated disease CED Phenotype details no dolichocephaly/scaphocephaly; no craniosynostosis; no frontal bossing; no macrocephaly; no telecanthus; no everted lower lip; no micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; fine hair; no skin laxity; dry skin; narrow thorax; no pectus excavatum; short humeri; brachydactyly; webbing of fingers; no postaxial polydactyly; restricted flexion of fingers; syndactyly of 2-3-4 toes; no bilateral sandal gap; joint laxity; nephronophthisis; no liver disease; no heart disease; no neurological findings; no recurrent lung infections, normal intelligence; height 112 cm (-2.5 SD) Diagnosis/Initial Sensenbrenner syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite CED3 Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-25 18:55:19 +02:00 (CEST) Date last edited N/A

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