Phenotype #0000345878

Individual ID 00457414
Associated disease MLID
Diagnosis/Initial aspecifc (multilocus imprinting disturbances)
Diagnosis/Definite Klinefelter syndrome
Phenotype details amniocentesis (high maternal age) Klinefelter-Syndrome; brith 27w-465 g, OFC 32 cm; postnatal growth restriction, respiratory support 2m, gastric tube feeding first year; microcephaly, precocious puberty, dysmorphism; developmental delay moderate to severe mental retardation, severe speech delay, relatively short stature
Inheritance Unknown
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 2024-11-11 14:11:18 +01:00 (CET)
Date last edited N/A

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