Phenotype #0000243033

Individual ID	00324490
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
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; Pierre Robin sequence; dental crowding; skeletal anomalies; short hands/brachydactyly; no hip defects; thin/short long bones; squared vertebrae; abnormal cervical vertebrae; 11 pairs of ribs; scoliosis; limited flexion proximal interphalangeal joints both hands; hearing loss (conductive); no cardiac defects
Inheritance	Familial, autosomal recessive
Age/Examination	12y10m (12 years, 10 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	N/A

Global Variome shared LOVD