Disorders We Study

DDC Clinic provides care for patients with the following genetic and metabolic diseases. Click on OMIM number to link to the OMIM database.

 

Disorder Genes OMIM number
3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1 210200
Acromesomelic dwarfism GDF5 201250
Adenylosuccinase (adenylosuccinate lyase, ADSL) deficiency ADSL 103050
Alagille syndrome JAG1 118450
Albinism, oculocutaneous, type IA TYR 203100
Albinism, oculocutaneous, type IB TYR 606952
Alpha-1 antitrypsin deficiency SERPINA1 613490
Amish brittle hair syndrome MPLKIP 234050
Apolipoprotein C-II deficiency APOC2 207750
Ataxia-telangiectasia ATM 208900
Autism spectrum disorders   209850
Autosomal dominant mental retardation-22 ZBTB18 612337
Autosomal dominant mental retardation-30 ZMYND11 616083
Autosomal dominant mental retardation-5 SYNGAP1 612621
Autosomal recessive spastic paraplegia-41 KPTN 615637
Autosomal recessive spastic paraplegia-45 NT5C2 613162
Bain type of X-linked syndromic intellectual developmental disorder HNRNPH2 300986
Becker muscular dystrophy DMD 300376
Beckwith-Wiedeman Syndrome ICR1 130650
Bipolar affective   125480
Biotinidase Deficiency BTD 253260
Byler disease ATP8B1 211600
Cardiomyopathy, familial hypertrophic, 9 TTN 613765
Cartilage-hair hypoplasia dwarfism RMPP 250250
Celiac disease   212750
Cerebral creatine deficiency syndrome 1 SLC6A8 300352
Charcot-Marie-Tooth disease GDAP1 214400
CHARGE syndrome CHD7 214800
Chicken breast disease (Amish nemaline myopathy) TNNT1 605455
Chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion 615656
Chromosome 17q12 duplication syndrome 17q12q21.31 microduplication 614526
Chromosome 18q deletion syndrome 22 Mb 18qter deletion 601808
Chromosome 1q21.1 deletion syndrome 1q21.1q21.2 microdeletion 612474
Chromosome 2 deletion   612345
Chromosome 22q11.23 dup   608636
Chromosome 2q37.2 deletion   600430
Chromosome 8 deletion   614230
Chromosome 8 duplication   151200
Chromosome 9p deletion syndrome   158170
Cockayne syndrome ERCC6 133540
Cohen syndrome VPS13B 216550
Combined oxidative phosphorylation deficiency-13 PNPT1 614934
Congenital Pontocerabella Hypoplasia TSEN54 277470
Cornelia de Lange Syndrome NIPBL 122470
Cowden syndrome 1 PTEN 158350
Cri-Du-Chat Syndrome chromosome 5 deletion 123450
Crigler-Najjar syndrome Type 1 UGT1A1 218800
Cystic Fibrosis CFTR 219700
Deafness, autosomal recessive 1A GJB2 220290
Developmental and epileptic encephalopathy-17 GNAO1 615473
Developmental and epileptic encephalopathy-2 CDKL5 300672
Developmental and epileptic encephalopathy-25, with amelogenesis imperfecta SLC13A5 615905
Developmental and epileptic encephalopathy-27 GRIN2B 616139
Developmental and epileptic encephalopathy-54 HNRNPU 617391
Developmental and epileptic encephalopathy-94 CHD2 615369
Dilated Cardiomyopathy DSP 615821
Dopa-responsivsive dystonia GCH1 128230
Down syndrome Trisomy 21 190685
Duchenne muscular dystrophy DMD 310200
Ectopia Lentis Type 2 ADAMTSL4 225200
Factor V Leiden F5 188055
Familial focal epilepsy with variable foci-3 NPRL3 617118
Familial hypercholesterolemia-2 APOB 144010
Familial Hypobetalipoproteinemia-1 APOB 615558
Fragile X syndrome FMR1 300624
Friedreich Ataxia FXN 229300
Fructose intolerance ALDOB 229600
Galactosemia   GALT 230400
Galloway-Mowat syndrome (yoder dystonia) WDR73 251300
Ganglioside GM2 synthase deficiency B4GALNT1 609195
Ganglioside GM3 synthase deficiency ST3GAL5 609056
Gastrointestinal defects and immunodeficiency syndrome-2  PI4KA 619708
Gaucher disease GBA 230800
Gittleman Syndrome SLC12A3 263800
Glucose/galactose malabsorption SLC5A1 606824
GLUT1 deficiency syndrome SLC2A1 606777
Glutaric acidemia I GCDH 231670
Gorlin syndrome PTCH1, PTCH2, SUFU 109400
Hawkinsinuria HPD 140350
Helsmoortel-Van der Aa syndrome ADNP 615873
Hemophilia B – Factor IX deficiency F9 306900
HERC2 defect syndrome HERC2 615516
Hereditary Hemochromatosis HFE 235200
Hereditary Spherocytosis SLC4A1 612653
Hirschsprung disease   142623
Holoprosencephaly Type 1 HPE 236100
Holoprosencephaly Type 5 ZIC2 609637
Hypertriglyceridemia – lipoprotein lipase deficiency LPL 238600
Hypertrophic cardiomyopathy MYBPC3 115197
Infantile lethal cardiomyopathy MYBPC3 115197
Intellectual developmental disorder and retinitis pigmentosa SCAPER 618195
Intellectual developmental disorder with autism and speech delay TBR1 606053
Intellectual developmental disorder with autistic features and language delay ? TANC2 618906
Intellectual developmental disorder with dysmorphic facies and ptosis BRPF1 617333
Jacobsen syndrome chromosome 11qter deletion 147791
Jalili Syndrome CNNM4 217080
Jervell and Lange-Nielsen syndrome KCNQ1 220400
Kabuki Syndrome KMT2D 147920
Kleefstra Syndrome 2 KMT2C 617768
Klinefelter syndrome 47, XXY  
Koolen-De Vries syndrome KANSL1 610443
Landau-Kleffner syndrome GRIN2A 245570
Leri-Weill dyschondrosteosis SHOX 127300
Limb-girdle muscular dystrophy type 2A CAPN3 253600
Long QT syndrome-1 KCNQ1 192500
Maple syrup urine disease BCKDHA 248600
Mast syndrome SPG21 248900
McKusick-Kaufman syndrome MKKS 236700
MELAS Syndrome MTTL1 590050
Mental Retardation, non-syndromic SMG8 619268
Microcephalic osteodysplastic primordial dwarfism, Type 1 (MOPD1) RNU4ATAC 210710
Microcephaly and chorioretinopathy-1 TUBGCP6 251270
Mitochondrial complex I deficiency nuclear type 10 NDUFAF2 618233
Mitochondrilal respiratory chain complex IV deficiency SURF1 220110
Myopia and Deafness SLITRK6 221200
Neural tube defect (spinal bifida)   182940
Neurodegeneration with brain iron accumulation-1 PANK2 234200
Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures SNIP1 614501
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties PURA 616158
Neurodevelopmental disorder with or without hyperkinetic movements and seizures GRIN1 614254
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities ZMYM2 619522
Neurofibromatosis Type 1 NF1 162200
NRCAM-associated neurodevelopmental disorder NRCAM  
Omenn syndrome RAG1 603554
Orofacial clefting HYAL2  
Osteogenesis Imperfecta Type 14 TMEM38B 615066
Osteopetrosis TCIRG1 259700
PANDAS    
Penta X syndrome    
Pearson Syndrome   557000
Phenylketonuria (PKU) PAH 261600
Pitt-Hopkins-like syndrome-1 CNTNAP2 610042
Primary ciliary dyskinesia-5 HYDIN 608647
Prolidase deficiency PEPD 170100
Pseudotrisomy 13 syndrome   264480
Pyruvate dehydrogenase deficiency PDHA1 312170
Pyruvate kinase deficiency of red cell PKLR 266200
Rett syndrome MECP2 312750
Rett syndrome, congenital variant FOXG1 613454
Ring chromosome 20 syndrome    
RSRC1 defect syndrome RSRC1 618402
Rubinstein-Taybi syndrome CREBBP 180849
Russell Silver syndrome ICR1 180860
SAMS association SAMHD1 612952
Schizencephaly   269160
Smith-Lemli Opitz DHCR7 270400
Soto’s syndrome NSD1 117550
Spastic ataxia-4 MTPAP 613672
Tarsal-carpal coalition syndrome NOG 186570
Tatton-Brown-Rahman syndrome DNMT3A 615879
TMCO1 defect syndrome TMCO1 213980
TNF receptor-associated periodic syndrome (TRAPS) TNFRSF1A 142680
Troyer syndrome SPART 275900
Tuberous Sclerosis TSC2 613254
Turner Syndrome X chromosome 300082
Ullrich congenital Muscular Dystrophy COL6A3 254090
Usher syndrome, Type II USH2A 276901
White-Sutton Disorder POGZ 616364
Williams Syndrome 7q11.23 microdeletion 194050
X-linked immunodysregulation, polyendocrinopathy, and enteropathy FOXP3 304790
X-linked intellectual developmental disorder-21 IL1RAPL1 300143
X-linked syndromic mental retardation-15 (Cabezas type) CUL4B 300354