Phenotype #0000347883

Individual ID 00460158
Associated disease SCKL
Diagnosis/Initial Seckel syndrome
Diagnosis/Definite MOPD2
Phenotype details see paper; ..., prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead, receded hairline, sparse scalp hair, beaked nose, mild retrognathia, hypotonia; 3y-paralyzed due to cerebrovascular malformation; X-ray 3y-high iliac wings, narrow ischia/pubis, overtubulated long bones, delta-shaped distal femoral metaphysis,marked widening
Inheritance Familial, autosomal recessive
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 15:08:45 +01:00 (CET)
Date last edited N/A

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