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
Created by	Johan den Dunnen
Date created	2020-04-25 18:55:19 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD