Biorepository – Sample Request

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BBSOAS Sample Type*

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CACNA1A mutation Sample Type*

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CACNA1H mutation Sample Type*

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CHAMP1 mutation Sample Type*

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CHD2-Related Neurodevelopmental Disorder Sample Type*

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Chromosome 8p Disorders Sample Type*

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DYRK1A mutation Sample Type*

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FOXG1 mutation Sample Type*

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Glut1 Deficiency Syndrome Sample Type*

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GRIN-Related Disorders Sample Type*

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Hao-Fountain Syndrome Sample Type*

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Helsmoortel-Van Der Aa syndrome Sample Type*

Helsmoortel-Van Der Aa syndrome Aliquots/Vials*

HNRNPH2 mutation Sample Type*

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Hunter Syndrome Sample Type*

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KIF1A Associated Neurological -Disorder Sample Type*

KIF1A Associated Neurological -Disorder Aliquots/Vials*

KCNQ2 Encephalopathy Sample Type*

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Kleefstra syndrome Sample Type*

Kleefstra syndrome Aliquots/Vials*

Malan Syndrome Sample Type*

Malan Syndrome Aliquots/Vials*

Phelan-McDermid Syndrome Sample Type*

Phelan-McDermid Syndrome Aliquots/Vials*

SATB2-Associated Syndrome Sample Type*

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Schinzel-Giedion Syndrome Sample Type*

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SCN2A mutation Sample Type*

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SCN8A mutation Sample Type*

SCN8A mutation Aliquots/Vials*

SETBP1 Deficiency Disorder Sample Type*

SETBP1 Deficiency Disorder Aliquots/Vials*

SHANK2 mutation Sample Type*

SHANK2 mutation Aliquots/Vials*

SLC6A1 mutation Sample Type*

SLC6A1 mutation Aliquots/Vials*

STXBP1 Disorders Sample Type*

STXBP1 Disorders Aliquots/Vials*

Zellweger Spectrum Disorder Sample Type*

Zellweger Spectrum Disorder Aliquots/Vials*

SynGAP1-Related Intellectual Disability Sample Type*

SynGAP1-Related Intellectual Disability Aliquots/Vials*

Normal Control Sample Type*

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Biorepository – Sample Request

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Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (NR2F1)
CACNA1A mutation (CACNA1A)
CACNA1H mutation (CACNA1H)
CHAMP1 mutation (CHAMP1)
CHD2-Related Neurodevelopmental Disorder (CHD2)
Chromosome 8p Disorders (8p)
DYRK1A mutation (DYRK1A)
FOXG1 mutation (FOXG1)
Glut1 Deficiency Syndrome (SLC2A1)
GRIN-Related Disorders (GRIN)
Hao-Fountain Syndrome (USP7)
Helsmoortel-Van Der Aa syndrome (ADNP)
HNRNPH2 mutation (HNRNPH2)
Hunter Syndrome (MPSII, IDS)
KIF1A Associated Neurological -Disorder (KIFA1)
KCNQ2 Encephalopathy (KCNQ2)
Kleefstra syndrome (EHMT1)
Malan Syndrome (NFIX)
Phelan-McDermid Syndrome (SHANK3)
SATB2-Associated Syndrome (SATB2)
Schinzel-Giedion Syndrome (SETBP1)
SCN2A mutation (SCN2A)
SCN8A mutation (SCN8A)
SETBP1 Deficiency Disorder (SETBP1)
SHANK2 mutation (SHANK2)
SLC6A1 mutation (SLC6A1)
STXBP1 Disorders (STXBP1)
SynGAP1-Related Intellectual Disability (SYNGAP1)
Zellweger Spectrum Disorder (PEX)
Normal Control
Other