Phenotype #0000347853

Individual ID 00114689
Associated disease SCKL
Diagnosis/Initial Seckel syndrome
Diagnosis/Definite MOPD2
Phenotype details Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small broken?? teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal
Inheritance Familial, autosomal recessive
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2025-01-18 12:26:51 +01:00 (CET)
Date last edited N/A

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