Phenotype #0000243030

Individual ID	00324487
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	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; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; enamel dysplasia/multiple caries; skeletal anomalies; no short hands/brachydactyly; no hip defects; thin/short long bones; no squared vertebrae; no abnormal cervical vertebrae; no 11 pairs of ribs; scoliosis; cardiac arrhythmia (ventricular extrasystoles, atrioventricular block)
Inheritance	Familial, autosomal recessive
Age/Examination	7y4m (7 years, 4 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