Differences
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| Both sides previous revision Previous revision Next revision | Previous revision | ||
| kabuki_syndrome [2025/07/17 00:33] – Scott Larson | kabuki_syndrome [2025/07/17 00:47] (current) – Scott Larson | ||
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| Line 6: | Line 6: | ||
| * short columella with depressed nasal tip | * short columella with depressed nasal tip | ||
| * large prominent cupped ears | * large prominent cupped ears | ||
| + | |||
| + | <WRAP round box> | ||
| + | {{:: | ||
| + | From reference [4] | ||
| + | </ | ||
| * developmental delay and intellectual disability | * developmental delay and intellectual disability | ||
| * Post natal growth deficiency | * Post natal growth deficiency | ||
| Line 28: | Line 33: | ||
| * GU anomalies | * GU anomalies | ||
| * Cleft palate | * Cleft palate | ||
| - | * Increased susceptibility to infections and autoimmune disorders | + | * Increased susceptibility to infections and autoimmune disorders |
| + | * Immune thrombocytopenia | ||
| ====Etiology==== | ====Etiology==== | ||
| * 75% from KMT2D gene mutations (autosomal dominant) | * 75% from KMT2D gene mutations (autosomal dominant) | ||
| Line 34: | Line 40: | ||
| * rest unknown | * rest unknown | ||
| ====Resources==== | ====Resources==== | ||
| - | | + | |
| - | | + | |
| + | - [[https:// | ||
| + | - [[https:// | ||
| {{tag> | {{tag> | ||