Phenotype #0000015392

Individual ID 00016861
Associated disease MRX;IDX
Phenotype details moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features
Diagnosis/Initial Börjeson-Forssman-Lehmann syndrome
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Andreas Tzschach
Database submission license No license selected
Created by Johan den Dunnen
Date created 2014-06-11 09:06:15 +02:00 (CEST)
Date last edited 2021-12-02 12:04:53 +01:00 (CET)

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