Phenotype #0000207390

Individual ID 00269562
Associated disease KBGS
Phenotype details low anterior and posterior hairlines, triangular face with pointed chin, synophrys, long and downslanting palpebral fissures, ptosis, hypertelorism, prominent nasal bridge, anteverted nostrils, long philtrum, tented upper lip, prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; moderate intellectual disability; delayed bone age; no costovertebral anomalies; 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 14:22:40 +01:00 (CET)

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