[edit] CASE REPORT: 1463

[edit] General

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Category	Text

Code	Phenotype Trait	Definition
LDDB:05.01.03	Prominent forehead / frontal bossing	The term bossing means a protuberance, or round knob. A bossed forehead mostly has two prominences, divided by a shallow groove. For this feature any prominence will do (if not familial).
LDDB:08.05.04	Palpebral fissures slant up	A 'mongoloid slant' to the palpebral fissure.
AEPC:09.05.01	Pulmonary valvar stenosis
LDDB:08.05.01	Almond shaped palpebral fissures	In the shape of an almond nut. Said to be typical of Prader-Willi syndrome, but common in any type of obesity and it is very non-specific.
AEPC:11.02.07	Sinus tachycardia
LDDB:10.05.05	Small mandible / micrognathia	A subjective impression of a small jaw. Difficult in infancy and early childhood. Family background must be taken into account. The jaw often grows 'out' with age.
AEPC:09.15.01	Aortic valvar stenosis - congenital

Aberration	Label	Source	Platform	Confirmation	Comment	Inheritance	Cause of aberration
Deletion 6: 148748307 - 151118307	Pathogenic	Bench		Other