Phenotype #0000243028

Individual ID	00324485
Associated disease	?
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	SSFSC2
Phenotype details	prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; macrodontia, enamel dysplasia/multiple caries, dental crowding, ectopic teeth; skeletal anomalies; short hands/brachydactyly; narrow iliac wing,coxa valga; thin/short long bones; no squared vertebrae; no 11 pairs of ribs; no scoliosis; no joint abnormalities; no hearing loss (conductive); no cardiac defects
Inheritance	Familial, autosomal recessive
Age/Examination	11y06m (11 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-14 19:34:41 +01:00 (CET)
Date last edited	2025-11-22 16:32:38 +01:00 (CET)

Global Variome shared LOVD