[edit] CASE REPORT: 16

[edit] General

This patient does not yet have a clinical description.

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Category	Text
general	Parental DNA samples were not available.

Code	Phenotype Trait	Definition
LDDB:32.06.00	SEIZURES, general abnormalities
HP:0001328	Learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000107	Renal cysts
HP:0000716	Depression	A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
AEPC:05.04.01	ASD
HP:0000218	High palate	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0000347	Micrognathia	`Developmental hypoplasia` (MPATH:10060) of the `mandible` (FMA:52748).
HP:0000276	Long face	Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
LDDB:28.05.06	Pituitary tumours	"Of all types. Include suprasellar region tumours. Gliomas, craniopharyngiomas, adenomas, germ-cell tumours and other developmental masses. See also ""brain tumours/cysts""."

Aberration	Label	Source	Platform	Confirmation	Comment	Inheritance	Cause of aberration
Deletion 6: 9561184 - 13053795	Pathogenic	Bench		Other	Affymetrix SNP 6.0
Duplication 9: 2079340 - 2220694	Probably pathogenic	Bench		Other	Affymetrix SNP 6.0