Phenotype #0000207387

Individual ID 00269559
Associated disease KBGS
Phenotype details macrodontia; triangular face with pointed chin, low anterior hairline, long palpebral fissures, ptosis, anteverted nostrils, long philtrum, prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers, cutaneous syndactyly of fingers and toes; short stature; mild intellectual disability; delayed bone age; accessory cervical ribs; cryptorchidism
Diagnosis/Initial KBG syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
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 2019-11-29 14:13:05 +01:00 (CET)
Date last edited 2019-11-29 14:32:30 +01:00 (CET)

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