C1848213

Periventricular Heterotopia, X-Linked

FLNA

C1853099

Cornelia De Lange Syndrome 3

SMC3

C1857761

Alagille Syndrome 2

NOTCH2

C1861922

Campomelic Dysplasia

SOX9

C1861923

Acampomelic Campomelic Dysplasia

SOX9

C1864100

Pseudohypoparathyroidism, Type Ib

GNAS

C1866398

Proteus-Like Syndrome (Disorder)

PTEN

C1866504

Photosensitive Trichothiodystrophy

MPLKIP, ERCC2

C1867983

Porencephaly, Familial

COL4A2

C1868720

Periventricular Nodular Heterotopia

ARFGEF2, FLNA

C1869114

Weill-Marchesani Syndrome, Autosomal Recessive

ADAMTS10

C1869115

Weill-Marchesani Syndrome, Autosomal Dominant

FBN1

C1955869

Malformations Of Cortical Development

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

C1955870

Classical Lissencephalies And Subcortical Band Heterotopias

MNT, YWHAE

C1955934

Trichothiodystrophy Syndromes

MPLKIP, ERCC2

C1956097

Wolf-Hirschhorn Syndrome

LETM1, WHSC1

C1956125

Alagille Syndrome 1

JAG1

C1959582

Pten Hamartoma Tumor Syndrome

PTEN

C1959620

Dihydropyrimidine Dehydrogenase Deficiency

DPYD

C1959626

Mevalonic Aciduria

MVK

C2316212

Cryopyrin-Associated Periodic Syndromes

MME

C2350233

Antley-Bixler Syndrome Phenotype

FGFR2

C2584774

Congenital Hypofibrinogenemia

FGA, FGB, FGG

C2607929

Carney Complex, Type 1

PRKAR1A

C2678439

Cranioosteoarthropathy

HPGD

C2697932

Loeys-Dietz Syndrome

SMAD3, TGFB2, TGFBR1, TGFBR2

C2700553

Omenn Syndrome

ADA, IL7R, CHD7, RAG1, DCLRE1C

C2713347

7-Dehydrocholesterol Reductase Deficiency

DHCR7

C2713442

Polyposis, Adenomatous Intestinal

APC

C2717836

Steroid Sulfatase Deficiency Disease

STS

C2745948

Hyalinosis, Systemic

ANTXR2

C2748895

Ovotesticular Disorders Of Sex Development

SOX9

C2751306

Polycystic Kidney Disease, Type 2

PKD2

C2751824

46, Xy Disorders Of Sex Development

CYP11A1, LHCGR

C2919945

Cavernous Hemangioma Of Brain

KRIT1

C2931196

Craniofacial Dysostosis Type 1

ERF, FGFR2

C2931735

Epidermolytic Palmoplantar Keratoderma Vorner Type

KRT1, KRT9, KRT16

C2931833

Hyperinsulinemic Hypoglycemia, Familial, 2

KCNJ11

C2936346

22Q11 Deletion Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C2936403

46, Xx Disorders Of Sex Development

NR3C1

C2936419

46, Xx Testicular Disorders Of Sex Development

SOX9

C2936694

Swyer Syndrome

NR0B1, DHH, SOX9

C2936791

Antley-Bixler Syndrome, Autosomal Dominant

FGFR1, FGFR2

C2939465

Deficiency Of Glucose-6-Phosphate Dehydrogenase

G6PD

C2973527

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

DSPP

C3178805

Heterotaxy Syndrome

TDGF1, ACVR2B

C3179455

Niemann-Pick Disease, Type C1

NPC1

C3494506

Pseudohypoparathyroidism, Type Ia

GNAS

C3495483

Amish Brittle Hair Brain Syndrome

MPLKIP

C3536983

Familial Hypophosphatemic Rickets

CLCN5

C3541456

Spondyloepiphyseal Dysplasia Tarda, X-Linked

TRAPPC2

C3853779

Neonatal Alloimmune Thrombocytopenia

ITGB3

C3854181

Nevus Sebaceous

KRAS

C3888018

Congenital Hyperinsulinism

KCNJ11