Centrum prenatální diagnostiky, s.r.o.

Veveří 39, 602 00 Brno

Tel.: +420 - 542 221 740

e-mail: pvlasin@iol.cz


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#610443

CHROMOSOME 17q21.31 MICRODELETION SYNDROME

Jiný název:

MICRODELETION 17q21.31 SYNDROM

Gene map locus 17q21.31

#606232

CHROMOSOME 22q13.3 DELETION SYNDROME

Jiný název:

TELOMERIC 22q13 MONOSOMY SYNDROME

Gene map locus 22q13.3

%609425

CHROMOSOME 3q29 MICRODELETION SYNDROME

Jiný název:

MICRODELETION 3q29 SYNDROME

Gene map locus 3q29

#175100

ADENOMATOUS POLYPOSIS OF THE COLON; APC

Jiný název:

FAMILIAL ADENOMATOUS POLYPOSIS; FAP
FAMILIAL POLYPOSIS OF THE COLON; FPC
POLYPOSIS, ADENOMATOUS INTESTINAL
GARDNER SYNDROME, INCLUDED; GS, INCLUDED
BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED
ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, INCLUDED
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED

Gene map locus 5q21-q22

#300200

ADRENAL HYPOPLASIA, CONGENITAL; AHC

Alternative titles; symbols

ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH
ADDISON DISEASE, X-LINKED; AHX
AHC WITH HHG
CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA
AHC WITH ISOLATED GONADOTROPIN DEFICIENCY
ADRENAL HYPOPLASIA, CONGENITAL, WITH PRECOCIOUS PUBERTY, INCLUDED
ADRENAL INSUFFICIENCY, PROGRESSIVE, AND HYPOGONADOTROPIC HYPOGONADISM, INCLUDED

Gene map locus Xp21.3-p21.2,

#118450

ALAGILLE SYNDROME 1; ALGS1

Alternative titles; symbols

ALAGILLE SYNDROME; ALGS
ALAGILLE-WATSON SYNDROME; AWS
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
ARTERIOHEPATIC DYSPLASIA; AHD
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC

Gene map locus 20p12

#105830

ANGELMAN SYNDROME; AS

Alternative titles; symbols

HAPPY PUPPET SYNDROME, FORMERLY
ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDED

Gene map locus 15q11-q13, Xq28

#106210

ANIRIDIA; AN

Alternative titles; symbols

ANIRIDIA II, FORMERLY; AN2, FORMERLY

Gene map locus 11p13

%209850

AUTISM

Alternative titles; symbols

AUTISTIC DISORDER
AUTISM SPECTRUM DISORDER, INCLUDED
AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED; AUTS1, INCLUDED

Gene map locus 7q22, 6p21.3-p21.2, 2p16.3

#300425

AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1

Alternative titles; symbols

AUTSX1

Gene map locus Xq13

#300495

AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2

Alternative titles; symbols

AUTSX2
MENTAL RETARDATION, X-LINKED, INCLUDED

Gene map locus Xp22.33

#300496

AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3

Alternative titles; symbols

AUTSX3

Gene map locus Xq28

#109400

BASAL CELL NEVUS SYNDROME; BCNS

Alternative titles; symbols

GORLIN SYNDROME
GORLIN-GOLTZ SYNDROME
NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS
MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES

Gene map locus 9q22.3

#130650

BECKWITH-WIEDEMANN SYNDROME; BWS

Alternative titles; symbols

EMG SYNDROME
EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME
WIEDEMANN-BECKWITH SYNDROME; WBS
BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED

Gene map locus 11p15.5, 11p15.5, 11p15.5, 5q35

%600430

BRACHYDACTYLY-MENTAL RETARDATION SYNDROME

Alternative titles; symbols

BDMR
ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME
ALBRIGHT HEREDITARY OSTEODYSTROPHY 3; AHO3

Gene map locus 2q37,

#113650

BRANCHIOOTORENAL SYNDROME 1; BOR1

Alternative titles; symbols

BRANCHIOOTORENAL DYSPLASIA
MELNICK-FRASER SYNDROME

Gene map locus 8q13.3

+300300

BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

Alternative titles; symbols

AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK
B-CELL PROGENITOR KINASE; BPK
AGAMMAGLOBULINEMIA, X-LINKED, INCLUDED; XLA, INCLUDED
BRUTON TYPE AGAMMAGLOBULINEMIA, INCLUDED
AGAMMAGLOBULINEMIA, X-LINKED, TYPE I, INCLUDED; AGMX1, INCLUDED
HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED
IMMUNODEFICIENCY 1, INCLUDED; IMD1, INCLUDED

Gene map locus Xq21.3-q22

#114290

CAMPOMELIC DYSPLASIA

Alternative titles; symbols

CMPD
CMD1; CMPD1
CMPD1/SRA1
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED
ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED
CAMPTOMELIC DYSPLASIA, INCLUDED

Gene map locus 17q24.3-q25.1

#115470

CAT EYE SYNDROME; CES

Alternative titles; symbols

SCHMID-FRACCARO SYNDROME
CHROMOSOME 22 PARTIAL TETRASOMY
INV DUP(22)(q11)

Gene map locus 22q11

#118220

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Alternative titles; symbols

HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN IA
HMSN1A
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A

Gene map locus 17p11.2

#302800

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1

Alternative titles; symbols

CMTX
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED
HMSN, X-LINKED
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1
CMT2, FORMERLY

Gene map locus Xq13.1

#214800

CHARGE SYNDROME

Alternative titles; symbols

CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES
HALL-HITTNER SYNDROME; HHS

Gene map locus 8q12.1, 7q21.1

#119600

CLEIDOCRANIAL DYSPLASIA; CCD

Alternative titles; symbols

CLEIDOCRANIAL DYSOSTOSIS; CLCD
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED

Gene map locus 6p21

#122470

CORNELIA DE LANGE SYNDROME 1; CDLS1

Alternative titles; symbols

CDLS
CDL
TYPUS DEGENERATIVUS AMSTELODAMENSIS
DE LANGE SYNDROME
BRACHMANN-DE LANGE SYNDROME; BDLS

Gene map locus 5p13.1

#123450

CRI-DU-CHAT SYNDROME

Alternative titles; symbols

CAT CRY SYNDROME

Gene map locus 5p15.2

%220200

DANDY-WALKER SYNDROME; DWS

Alternative titles; symbols

DANDY-WALKER MALFORMATION; DWM

Gene map locus 3q24, 3q24

%142340

DIAPHRAGMATIC HERNIA, CONGENITAL

Alternative titles; symbols

HERNIA, CONGENITAL DIAPHRAGMATIC; HCD; CDH
DIAPHRAGMATIC DEFECT, CONGENITAL
DIAPHRAGM, UNILATERAL AGENESIS OF
HEMIDIAPHRAGM, AGENESIS OF
DIAPHRAGMATIC HERNIA 1, INCLUDED; DIH1; INCLUDED
DIAPHRAGM, COMPLETE AGENESIS OF, INCLUDED

Gene map locus 15q26.1

#188400

DIGEORGE SYNDROME; DGS

Alternative titles; symbols

CHROMOSOME 22q11.2 DELETION SYNDROME
HYPOPLASIA OF THYMUS AND PARATHYROIDS
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
TAKAO VCF SYNDROME, INCLUDED
CATCH22, INCLUDED

Gene map locus 22q11.2

%601362

DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2

Alternative titles; symbols

DGS2

Gene map locus 10p14-p13

#300018

DOSAGE-SENSITIVE SEX REVERSAL; DSS

Gene map locus Xp21.3-p21.2

#190685

DOWN SYNDROME

Alternative titles; symbols

TRISOMY 21, INCLUDED
DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED
DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED
TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED
LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED

Gene map locus Xp11.23, 21q22.3, 1q43

#164280

FEINGOLD SYNDROME

Alternative titles; symbols

OCULODIGITOESOPHAGODUODENAL SYNDROME; ODED
ODED SYNDROME
MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME; MODED
DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS, OR DUODENUM
FEINGOLD SYNDROME
MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME
MMT SYNDROME

Gene map locus 2p24.1

#300624

FRAGILE X MENTAL RETARDATION SYNDROME

Alternative titles; symbols

FRAGILE X SYNDROME; MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28
X-LINKED MENTAL RETARDATION AND MACROORCHIDISM
MARKER X SYNDROME
MARTIN-BELL SYNDROME

Gene map locus Xq27.3

#175700

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Alternative titles; symbols

POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

Gene map locus 7p13

#306955

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Alternative titles; symbols

DEXTROCARDIA WITH OTHER CARDIAC MALFORMATIONS
LATERALITY, X-LINKED
SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED
CONGENITAL HEART DEFECTS, X-LINKED, INCLUDED

Gene map locus Xq26.2

%236100

HOLOPROSENCEPHALY

Alternative titles; symbols

HOLOPROSENCEPHALY, FAMILIAL ALOBAR
HPE, FAMILIAL; HPEC
ARHINENCEPHALY
HOLOPROSENCEPHALY 1, INCLUDED; HPE1, INCLUDED
CYCLOPIA, INCLUDED

Gene map locus 2q37.1-q37.3, 21q22.3

#157170

HOLOPROSENCEPHALY 2; HPE2

Alternative titles; symbols

MIDLINE CLEFT SYNDROME, INCLUDED
DEMYER SEQUENCE, INCLUDED

Gene map locus 2p21

#142945

HOLOPROSENCEPHALY 3; HPE3

Alternative titles; symbols

HLP3

Gene map locus 7q36

#142946

HOLOPROSENCEPHALY 4; HPE4

Gene map locus 18p11.3

#609637

HOLOPROSENCEPHALY 5; HPE5

Gene map locus 13q32

#307030

HYPERGLYCEROLEMIA

Alternative titles; symbols

GLYCEROL KINASE DEFICIENCY
GK DEFICIENCY; GKD
GK1 DEFICIENCY

Gene map locus Xp21.3-p21.2

#146255

HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE

Alternative titles; symbols

HDR SYNDROME
BARAKAT SYNDROME
NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM

Gene map locus 10p15

#308100

ICHTHYOSIS, X-LINKED; XLI

Alternative titles; symbols

STEROID SULFATASE DEFICIENCY
STS DEFICIENCY
PLACENTAL STEROID SULFATASE DEFICIENCY
STEROID SULFATASE DEFICIENCY DISEASE; SSDD
ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED

Gene map locus Xp22.32

#147791

JACOBSEN SYNDROME; JBS

Alternative titles; symbols

CHROMOSOME 11q DELETION SYNDROME
PARTIAL 11q MONOSOMY SYNDROME

Gene map locus 11q23

#243800

JOHANSON-BLIZZARD SYNDROME; JBS

Alternative titles; symbols

NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS

Gene map locus 15q15-q21.1

#609583

JOUBERT SYNDROME 4; JBTS4

Gene map locus 2q13

%147920

KABUKI SYNDROME

Alternative titles; symbols

KABUKI MAKE-UP SYNDROME; KMS
NIIKAWA-KUROKI SYNDROME

+308700

KALLMANN SYNDROME 1; KAL1

Alternative titles; symbols

KMS
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA; HHA
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
ANOSMIC HYPOGONADISM
KALLMANN SYNDROME INTERVAL GENE 1, INCLUDED; KALIG1, INCLUDED
ADHESION MOLECULE-LIKE, X-LINKED, INCLUDED; ADMLX, INCLUDED
ANOSMIN 1, INCLUDED

Gene map locus Xp22.3

#127300

LERI-WEILL DYSCHONDROSTEOSIS; LWD

Alternative titles; symbols

DYSCHONDROSTEOSIS; DCO
MADELUNG DEFORMITY, INCLUDED

Gene map locus Ypter-p11.2, Xpter-p22.32

#300067

LISSENCEPHALY, X-LINKED, 1; LISX1

Alternative titles; symbols

XLIS
LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM
SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED; SBH, INCLUDED
DOUBLE CORTEX SYNDROME, INCLUDED
DC SYNDROME, INCLUDED

Gene map locus Xq22.3-q23

#300123

MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM

Alternative titles; symbols

MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED; MRGH, INCLUDED

Gene map locus Xq26.3

#250100

GeneTests, Links

METACHROMATIC LEUKODYSTROPHY

Alternative titles; symbols

MLD
METACHROMATIC LEUKOENCEPHALOPATHY
CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM
SULFATIDE LIPIDOSIS
ARYLSULFATASE A DEFICIENCY
ARSA DEFICIENCY
CEREBROSIDE SULFATASE DEFICIENCY
PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED
METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED
METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED

Gene map locus 22q13.31-qter

#309801

MICROPHTHALMIA, SYNDROMIC 7; MCOPS7

Alternative titles; symbols

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS
MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEA
MIDAS SYNDROME

Gene map locus Xp22

#247200

MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

Alternative titles; symbols

MDS
MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED

Gene map locus 17p13.3

#252010

MITOCHONDRIAL COMPLEX I DEFICIENCY

Alternative titles; symbols

NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF

Gene map locus 1q23, 11q13, 6q16.1, 5q12.1, 5q11.1, 5pter-p15.33, 2q33-q34, Xq24, 20p12.1

#607872

CHROMOSOME 1p36 DELETION SYNDROME

Alternative titles; symbols

MONOSOMY 1p36 SYNDROME

#300376

MUSCULAR DYSTROPHY, BECKER TYPE; BMD

Alternative titles; symbols

BECKER MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE

Gene map locus Xp21.2

#310200

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

Alternative titles; symbols

DUCHENNE MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE

Gene map locus 12q21, Xp21.2

#161200

NAIL-PATELLA SYNDROME; NPS

Alternative titles; symbols

NPS1
ONYCHOOSTEODYSPLASIA
TURNER-KIESER SYNDROME
FONG DISEASE

Gene map locus 9q34.1

#256100

NEPHRONOPHTHISIS 1; NPHP1

Alternative titles; symbols

NEPHRONOPHTHISIS, FAMILIAL JUVENILE
NPH1

Gene map locus 2q13

+162200

NEUROFIBROMATOSIS, TYPE I; NF1

Alternative titles; symbols

NEUROFIBROMATOSIS
VON RECKLINGHAUSEN DISEASE
NEUROFIBROMIN, INCLUDED
NF1 MICRODELETION SYNDROME, INCLUDED
NF1 MICRODUPLICATION SYNDROME, INCLUDED

Gene map locus 17q11.2

#101000

NEUROFIBROMATOSIS, TYPE II; NF2

Alternative titles; symbols

NEUROFIBROMATOSIS, CENTRAL TYPE
ACOUSTIC SCHWANNOMAS, BILATERAL
BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF
ACOUSTIC NEURINOMA, BILATERAL; ACN

Gene map locus 22q12.2

#162500

NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

Alternative titles; symbols

POLYNEUROPATHY, FAMILIAL RECURRENT
TOMACULOUS NEUROPATHY

Gene map locus 17p11.2

#163950

NOONAN SYNDROME 1; NS1

Alternative titles; symbols

NOONAN SYNDROME
MALE TURNER SYNDROME
FEMALE PSEUDO-TURNER SYNDROME
TURNER PHENOTYPE WITH NORMAL KARYOTYPE
PTERYGIUM COLLI SYNDROME, INCLUDED

Gene map locus 12q24.1

#312080

PELIZAEUS-MERZBACHER DISEASE; PMD

Alternative titles; symbols

LEUKODYSTROPHY, HYPOMYELINATING, 1; HLD1

Gene map locus Xq22

#600273

POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS

Alternative titles; symbols

TUBEROUS SCLEROSIS/POLYCYSTIC KIDNEY DISEASE CONTIGUOUS GENE SYNDROME

Gene map locus 16p13.3

#610883

POTOCKI-LUPSKI SYNDROME; PTLS

Alternative titles; symbols

CHROMOSOME DUPLICATION 17p11.2 SYNDROME

Gene map locus 17p11.2

#601224

POTOCKI-SHAFFER SYNDROME

Alternative titles; symbols

PSS
CHROMOSOME 11p11.2 DELETION SYNDROME
PROXIMAL 11p DELETION SYNDROME; P11pDS
DEFECT11 SYNDROME

Gene map locus 11p11.2

#176270

PRADER-WILLI SYNDROME; PWS

Alternative titles; symbols

PRADER-LABHART-WILLI SYNDROME
PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED
PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED

Gene map locus 15q12, 15q11-q13

+180200

RETINOBLASTOMA; RB1

Alternative titles; symbols

RB
RB1 GENE, INCLUDED
p105-Rb, INCLUDED
OSTEOSARCOMA, RETINOBLASTOMA-RELATED, INCLUDED

Gene map locus 13q14.1-q14.2

#312750

RETT SYNDROME; RTT

Alternative titles; symbols

RTS
AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED

Gene map locus Xq28

#180500

RIEGER SYNDROME, TYPE 1; RIEG1

Alternative titles; symbols

RIEG
RGS
IRIDOGONIODYSGENESIS WITH SOMATIC ANOMALIES

Gene map locus 4q25-q26

#180849

GeneTests, Links

RUBINSTEIN-TAYBI SYNDROME; RSTS

Alternative titles; symbols

RUBINSTEIN SYNDROME
BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION
BROAD THUMB-HALLUX SYNDROME

Gene map locus 16p13.3, 22q13

#101400

SAETHRE-CHOTZEN SYNDROME; SCS

Alternative titles; symbols

ACROCEPHALOSYNDACTYLY, TYPE III; ACS3
ACS III
CHOTZEN SYNDROME
ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED
BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED; BPES3, FORMERLY, INCLUDED

Gene map locus 10q26, 7p21

*480000

SEX-DETERMINING REGION Y; SRY

Alternative titles; symbols

TESTIS-DETERMINING FACTOR; TDF
TESTIS-DETERMINING FACTOR ON Y; TDY

Gene map locus Yp11.3

#182290

SMITH-MAGENIS SYNDROME; SMS

Alternative titles; symbols

CHROMOSOME 17p11.2 DELETION SYNDROME
SMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED

Gene map locus 17p11.2

#117550

SOTOS SYNDROME

Alternative titles; symbols

CEREBRAL GIGANTISM

Gene map locus 5q35

#415000

SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED

Alternative titles; symbols

AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED
OLIGOZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED
OLIGOSPERMIA, NONOBSTRUCTIVE, Y-LINKED
SPERMATOGENIC ARREST, Y-LINKED
AZOOSPERMIA FACTOR REGIONS, INCLUDED
AZF REGIONS, INCLUDED

Gene map locus Yq11.2

%183600

SPLIT-HAND/FOOT MALFORMATION 1; SHFM1

Alternative titles; symbols

SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1
SPLIT-HAND DEFORMITY
ECTRODACTYLY; ECD

Gene map locus 7q21.2-q21.3, 2q31

%600095

SPLIT-HAND/FOOT MALFORMATION 3; SHFM3

Alternative titles; symbols

SHSF3

Gene map locus 10q24

#605289

SPLIT-HAND/FOOT MALFORMATION 4; SHFM4

Gene map locus 3q27

%606708

SPLIT-HAND/FOOT MALFORMATION 5; SHFM5

Gene map locus 2q31

#186000

SYNPOLYDACTYLY 1; SPD1

Alternative titles; symbols

SYNDACTYLY, TYPE II
SYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED

Gene map locus 2q31-q32

#107480

TOWNES-BROCKS SYNDROME; TBS

Alternative titles; symbols

RENAL-EAR-ANAL-RADIAL SYNDROME
REAR SYNDROME
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES
TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED

Gene map locus 16q12.1

#190350

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Alternative titles; symbols

TRPS I

Gene map locus 8q24.12

#150230

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Alternative titles; symbols

LANGER-GIEDION SYNDROME; LGS

Gene map locus 8q24.11-q24.13

#191100

TUBEROUS SCLEROSIS; TS

Alternative titles; symbols

TUBEROSE SCLEROSIS
TUBEROUS SCLEROSIS COMPLEX; TSC
EPILOIA
TUBEROUS SCLEROSIS 1, INCLUDED
TUBEROUS SCLEROSIS 2, INCLUDED
ADENOMA SEBACEUM, INCLUDED

Gene map locus 16p13.3, 12q14, 9q34

#192430

VELOCARDIOFACIAL SYNDROME

Alternative titles; symbols

CHROMOSOME 22q11.2 DELETION SYNDROME
VCF SYNDROME; VCFS
SHPRINTZEN VCF SYNDROME

Gene map locus 22q11.2

#194072

WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR

Alternative titles; symbols

WAGR SYNDROME
CHROMOSOME 11p13 DELETION SYNDROME
CHROMOSOME 11p14-p12 DELETION, INCLUDED

Gene map locus 11p13

#194050

WILLIAMS-BEUREN SYNDROME; WBS

Alternative titles; symbols

WILLIAMS SYNDROME; WMS; WS
HYPERCALCEMIA, INFANTILE, INCLUDED
SUPRAVALVAR AORTIC STENOSIS, INCLUDED
ELFIN FACIES WITH HYPERCALCEMIA

Gene map locus 7q11.23, 7q11.23

#194070

WILMS TUMOR 1; WT1

Alternative titles; symbols

NEPHROBLASTOMA

Gene map locus 13q12.3, 11p13, Xq26

#194190

WOLF-HIRSCHHORN SYNDROME; WHS

Alternative titles; symbols

WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED; WHSCR, INCLUDED
WOLF-HIRSCHHORN CHROMOSOME REGION 2, INCLUDED; WHSCR2, INCLUDED