Phenotype #0000243024

Individual ID 00324481
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; no Pierre Robin sequence/cleft palate; dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing, coxa valga; squared vertebrae; no 11 pairs of ribs; scoliosis; no joint abnormalities; hearing loss (conductive); no cardiac defects
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-12-14 19:34:41 +01:00 (CET)
Date last edited N/A

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