C0936256

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

AASS

C0949664

Tauopathies

MAPT

C1136249

Mental Retardation, X-Linked

PQBP1, RAB39B, PTCHD1, AGTR2, GDI1, MAOA, ATRX, PCDH19, SLC6A8, CASK

C1145628

Autonomic Nervous System Disorders

ECE1

C1306214

Acth-Secreting Pituitary Adenoma

GNAS, BMP4, AIP

C1384666

Hearing Impairment

IQGAP2, TMEM200A, CPN1, CCBE1, DNMT1, ZNF25, NLGN1, MSRB3, SUMF1, SH3PXD2B, ZFP69, APOE, HEG1, RPGR, THADA, CSMD1, TLR4, UQCRH, ACVR1B, SLC33A1, TJP2

C1450051

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

LMNA

C1527311

Brain Edema

MYL9, MMP9, MYLK, PLAU, S100B, TNF

C1527338

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

CST3

C1527348

Brain Hypoxia

ITPR1, ITPR2

C1568248

Usher Syndrome, Type Iii

HARS

C1621920

Intermediate Maple Syrup Urine Disease

PPM1K, DBT, BCKDHA, BCKDHB

C1720864

Sulfatidosis, Juvenile, Austin Type

SUMF1

C1802395

Congenital Muscular Hypertrophy-Cerebral Syndrome

SMC1A

C1836373

Muscular Dystrophy, Limb-Girdle, Type 2K

POMT1

C1838244

Tibial Muscular Dystrophy, Tardive

TTN

C1839259

Bulbo-Spinal Atrophy, X-Linked

AR

C1848201

Subcortical Band Heterotopia

EML1

C1848213

Periventricular Heterotopia, X-Linked

FLNA

C1853099

Cornelia De Lange Syndrome 3

SMC3

C1858991

Childhood Ataxia With Central Nervous System Hypomyelinization

EIF2B1, EIF2B4, EIF2B3, EIF2B5

C1867983

Porencephaly, Familial

COL4A2

C1868675

Parkinson Disease 2, Autosomal Recessive Juvenile

PARK2

C1868720

Periventricular Nodular Heterotopia

ARFGEF2, FLNA

C1955869

Malformations Of Cortical Development

AKT3, DYNC1H1, NDST1, TUBB2B, KIF5C, PIK3CA, TUBG1

C1955870

Classical Lissencephalies And Subcortical Band Heterotopias

MNT, YWHAE

C1956391

Temporal Arteritis

PTPN22

C1959626

Mevalonic Aciduria

MVK

C2919945

Cavernous Hemangioma Of Brain

KRIT1

C2937358

Cerebral Hemorrhage

ACE, HMOX1, ITGAV, ITGB3, MMP2, MMP9, SERPINC1, NPPB, PLAT, PLAU, POMC, BAX, BCL2, S100B, SPP1, VEGFA, CASP8

C3179455

Niemann-Pick Disease, Type C1

NPC1

C3714756

Intellectual Disability

FRY, CHL1, ASCC3, CAPN10, ERLIN2, MAN1B1, C12orf57, ZNF526, RAB39B, SLC31A1, PTCHD1, PARP1, CCBE1, ADRA2B, DYNC1H1, EEF1B2, FASN, FGFR2, FOXG1, CIC, FMR1, FOLR1, GNAS, WDR62, HEXA, APC, NDST1, INPP4A, LETM1, MEF2C, ASCL1, NAGLU, SCAPER, LARP7, PMM2, TMCO1, AHI1, GON4L, LINS1, BBS7, RABL6, POLR3B, INPP5E, PTEN, RALGDS, KDM5A, RGS7, BDNF, SC5D, TMEM135, SLC2A1, TH, VRK1, YY1, CA8, COL18A1, DOCK8, MFSD2A, PRKRA, SYNGAP1, CCNA2, CACNA1G, NRXN1, HDAC4, ZBTB40

C3854181

Nevus Sebaceous

KRAS

C4042891

Sleep Wake Disorders

HTR7, IL1B, POMC