Phenotype #0000347881

Individual ID 00460156
Associated disease MOPD
Diagnosis/Initial microcephalic osteodysplastic primordial dwarfism
Diagnosis/Definite MOPD2
Phenotype details see paper; ..., intra-uterine growth retardation, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia, opalescent teeth, abnormally shaped teeth, rootless molars, all teeth small, mandibular premolars unusually small/malformed, teeth loose, occlusal/incisal surfaces wore off very quickly
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-01-18 14:43:34 +01:00 (CET)
Date last edited N/A

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