Phenotype #0000024948

Individual ID	00027228
Associated disease	FMD1
Phenotype details	see paper; Sagittalmetopic sutures affected, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; mild exorbitism, grade II congenital subglottic stenosis, recurrent otitis media, umbilical hernia, undermodelling lower limb long bones, C2 pars defect, possible absence seizures, ... Mother prominent supraorbital ridge subject to burring procedure (23); 24y-seizures, otherwise good health, normal intellect; broad, tall forehead, mild hypertelorism, exorbitism a long, triangular chin, normal skull vault contour, anteriorposterior flattening chest with marked pectus excavatum, long fingers with camptodactyly digits (2–5), camptodactyly toes (3–5), with lateral deviation both halluces, no other family history of note
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Stephen Robertson
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2015-01-03 10:13:17 +01:00 (CET)
Date last edited	2015-10-11 17:24:46 +02:00 (CEST)

Global Variome shared LOVD