H00458  Craniosynostosis
       H01753  Antley-Bixler syndrome
       H01755  Apert syndrome
       H01756  Pfeiffer syndrome
       H01988  Jackson-Weiss syndrome
       H01989  Beare-Stevenson syndrome
       H01990  Muenke syndrome
       H01991  Saethre-Chotzen syndrome
       H01992  Craniofrontonasal syndrome
       H00076  Cockayne syndrome
       H00478  Prader-Willi syndrome (PWS)
       H00403  Disorders of nucleotide excision repair
       H00418  Bardet-Biedl syndrome (BBS)
       H00454  Oral-facial-digital syndrome 1
       H00442  Campomelic dysplasia (CD)
       H00443  Osteoglophonic dysplasia (OD)
       H00433  Holt-Oram syndrome
       H00619  Kenny-Caffey syndrome
       H00641  ADULT syndrome
       H00847  Al-Awadi/Raas-Rothschild syndrome
       H00611  IRF6-related disorders
       H00449  Oculodentodigital dysplasia
       H00453  Contiguous gene deletion syndrome involving EYA1
       H00461  FLNB-related disorders
       H00464  Nail-patella syndrome
       H00484  Other brachydactylies
       H00485  Robinow syndrome
       H00492  Langer syndrome
       H00493  Dyssegmental dysplasia, Silverman-Handmaker type
       H00493  Simpson-Golabi-Behmel syndrome
       H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
       H00504  Rubinstein-Taybi syndrome
       H00205  Peroxisome biogenesis disorder
       H01342  Zellweger syndrome (ZS)
       H00177  Adrenoleukodystrophy, neonatal (NALD)
       H00204  Infantile Refsum disease (IRD)
       H00509  3M syndrome
       H00510  Feingold syndrome
       H00161  Smith-Lemli-Opitz syndrome
       H00516  Isolated orofacial clefts
       H00519  Type XI collagenopathies
       H00520  Stickler syndrome 1
       H00522  Parastremmatic dysplasia
       H00523  Noonan syndrome and related disorders
       H01738  Noonan syndrome
       H01745  Cardiofaciocutaneous syndrome
       H01747  Costello syndrome
       H00529  Cranioectodermal dysplasia
       H00530  Joubert syndrome
       H00539  PTEN hamartoma tumor syndrome (PHTS)
       H00569  Aarskog-Scott syndrome
       H00556  CHARGE syndrome
       H00561  Smith-Magenis syndrome
       H00571  Johanson-Blizzard syndrome
       H00573  Townes-Brocks syndrome
       H00581  Alport syndrome
       H00607  Denys-Drash syndrome and WAGR syndrome
       H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
       H00617  Desmosterolosis
       H00622  Hypoparathyroidism-retardation-dysmorphism syndrome
       H00631  Cornelia de Lange syndrome (CdLS)
       H00639  Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome)
       H00640  Limb-mammary syndrome
       H00643  Tooth and nail syndrome
       H00673  Weill-Marchesani syndrome
       H00665  Mandibuloacral dysplasia
       H00669  Naxos disease
       H00711  Russell-Silver syndrome
       H00713  Beckwith-Wiedemann syndrome
       H00718  Sotos syndrome
       H01751  Weaver syndrome
       H00653  Marfan syndrome
       H00660  Congenital contractural arachnodactyly
       H00687  Fraser syndrome
       H00752  Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
       H00811  Distal arthrogryposis (DA)
       H00757  Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia
       H00797  Martsolf syndrome
       H00785  Hypotrichosis, congenital, with juvenile macular dystrophy
       H00889  MED12-related disorders
       H00894  FG syndrome (FGS)
       H00868  Stapes ankylosis with broad thumb and toes
       H00886  Donnai-Barrow syndrome
       H00922  Schinzel-Giedion midface retraction syndrome
       H00935  Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CRISPS)
       H00940  Cohen syndrome
       H00943  TARP syndrome
       H00946  Arts syndrome
       H00965  RAPADILINO syndrome
       H00997  CATSHL syndrome
       H00986  Multiple pterygium syndrome
       H00987  Fetal akinesia deformation sequence (FADS)
       H00993  Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
       H00991  Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
       H00992  Seckel syndrome
       H01008  C syndrome
       H01195  VACTERL/VATER association
       H01265  Hydrolethalus syndrome
       H01271  Hypoparathyroidism with sensorineural deafness and renal dysplasia
       H01281  Lathosterolosis
       H01370  SHORT syndrome
       H00727  Bosley-Salih-Alorainy syndrome and Athabascan brainstem dysgenesis syndrome
       H00934  Caudal duplication anomaly
       H00972  Endocrine-cerebro-osteodysplasia syndrome
       H01035  Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
       H01289  Mulibrey nanism
       H01403  Coffin-Siris syndrome
       H01428  Xeroderma pigmentosum (XP)
       H01412  Perlman syndrome
       H01413  Adams-Oliver syndrome (AOS)
       H01486  Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
       H01487  CHIME syndrome
       H01496  Spondyloocular syndrome (SOS)
       H01497  Temtamy preaxial brachydactyly syndrome (TPBS)
       H01568  3C syndrome
       H01569  CHOPS syndrome
       H01571  Singleton-Merten syndrome (SMS)
       H01572  Cole-Carpenter syndrome
       H01573  Zimmermann-Laband syndrome (ZLS)
       H01752  ATR-X syndrome
       H01776  Aicardi syndrome
       H01788  Klippel-Trenaunay-Weber syndrome
       H01793  Young-Simpson syndrome
       H01794  Genitopatellar syndrome (GPS)
       H01795  Blepharophimosis-mental retardation syndrome (BMRS)
       H01796  Uncombable hair syndrome
       H01797  Webb-Dattani syndrome
       H01800  Verheij syndrome
       H01814  Stromme syndrome
       H01816  Frank-ter Haar syndrome (FTHS)
       H01824  CODAS syndrome
       H01832  Lenz-Majewski syndrome
       H01834  Marshall-Smith syndrome
       H00908  Mowat-Wilson syndrome
       H01838  Mandibulofacial dysostosis with microcephaly
       H01839  Burn-McKeown syndrome
       H01840  Moebius syndrome
       H01843  Cerebrocostomandibular syndrome
       H01845  Catel-Manzke syndrome
       H01847  Thrombocytopenia-absent radius syndrome
       H01850  Hartsfield syndrome
       H01857  Filippi syndrome
       H02132  Microcephaly syndrome
       H01872  Microcephaly-capillary malformation syndrome
       H01876  Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)
       H01923  Microcephaly, short stature, and impaired glucose metabolism
       H01880  Autosomal recessive microcephaly and chorioretinopathy
       H01878  Al-Raqad syndrome
       H01879  Wiedemann-Steiner syndrome
       H01885  Megalencephaly-capillary malformation syndrome (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH)
       H01886  Van den Ende-Gupta syndrome
       H01887  3MC syndrome
       H01888  Carpenter syndrome
       H01889  Meier-Gorlin syndrome
       H01893  Lateral meningocele syndrome
       H01908  Carey-Fineman-Ziter syndrome
       H01912  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
       H01913  Renpenning syndrome
       H01914  Christianson syndrome
       H01915  Borjeson-Forssman-Lehmann syndrome
       H01916  Stocco dos Santos X-linked mental retardation syndrome
       H01917  CK syndrome
       H01919  Proud syndrome
       H01927  Van der Woude syndrome
       H01930  Au-Kline syndrome
       H01931  Lethal-type popliteal pterygium syndrome
       H01932  Ablepharon-macrostomia syndrome
       H01933  Porokeratosis
       H01934  Barber-Say syndrome
       H01984  Leopard syndrome
       H02023  Baraitser-Winter syndrome
       H02046  OFC syndrome
       H02047  Bohring-Opitz syndrome
       H02067  Boomerang dysplasia
       H02072  Stickler syndrome
       H02081  Marshall syndrome
       H02082  Floating-Harbor syndrome
       H02095  Perrault syndrome
       H02102  Myhre syndrome
       H02151  Hereditary congenital facial paresis
       H02153  Megalencephaly-capillary malformation syndrome