Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial hypoplasia, triphalangeal thumbs and hypospadias
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radio renal syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radius absent anogenital anomalies
Raine syndrome
Ramon Syndrome
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Rapid-onset dystonia-parkinsonism
Rapp-Hodgkin syndrome
Rasmussen Johnsen Thomsen syndrome
Reardon Wilson Cavanagh syndrome
Recessive dystrophic epidermolysis bullosa-generalized other
Recombinant chromosome 8 syndrome
Reducing body myopathy
Refsum disease
Refsum disease, infantile form
REN-related autosomal dominant tubulointerstitial kidney disease
Renal agenesis
Renal coloboma syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal dysplasia-limb defects syndrome
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal hypouricemia
Renal tubular acidosis with deafness
Renal tubular acidosis, distal, autosomal dominant
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Renier Gabreels Jasper syndrome
Renpenning syndrome 1
Reticular dysgenesis
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal cone dystrophy 1
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
Retinal vasculopathy with cerebral leukodystrophy
Retinitis pigmentosa
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinopathy pigmentary mental retardation
Rett syndrome
Revesz syndrome
RFT1-CDG (CDG-In)
Rh deficiency syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2 - See Rhizomelic chondrodysplasia punctata
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic syndrome
RHYNS syndrome
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Da Silva syndrome
Richieri Costa Pereira syndrome
Right ventricle hypoplasia
Rigid spine syndrome
Ring chromosome 1
Ring chromosome 10
Ring chromosome 12
Ring chromosome 13
Ring chromosome 14
Ring chromosome 15
Ring chromosome 16
Ring chromosome 17
Ring chromosome 18
Ring chromosome 20
Ring chromosome 21
Ring chromosome 22
Ring chromosome 4
Ring chromosome 6
Ring chromosome 7
Ring chromosome 8
Ring chromosome 9
Rippling muscle disease
RNAse T2-deficient leukoencephalopathy
Roberts syndrome
Robinow syndrome
Roch-Leri mesosomatous lipomatosis
Rodrigues blindness
Roifman syndrome
Rokitansky sequence
Rokitansky-Aschoff sinuses of the gallbladder
Rombo syndrome
Rommen Mueller Sybert syndrome
Rothmund-Thomson syndrome
Rotor syndrome
Roussy Levy syndrome
Rozin Hertz Goodman syndrome
RRM2B-related mitochondrial DNA depletion syndrome
Rud Syndrome
Russell-Silver syndrome
Rutherfurd syndrome
Ruvalcaba syndrome
Ruzicka Goerz Anton syndrome
Sabinas brittle hair syndrome - See Trichothiodystrophy
Saccharopinuria
Sacral defect with anterior meningocele
Sacral hemangiomas multiple congenital abnormalities
Sacral meningocele conotruncal heart defects
Saethre-Chotzen syndrome
Saito Kuba Tsuruta syndrome
Sakati syndrome
Sakoda complex
Salcedo syndrome
Salla disease
Sarcosinemia
Satoyoshi syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller syndrome
Say Meyer syndrome
Say syndrome
Say-Field-Coldwell syndrome
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
Scapuloperoneal syndrome, neurogenic, Kaeser type
SCARF syndrome
Schaaf-Yang syndrome
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Scheie syndrome
Scheuermann disease
Schimke immunoosseous dysplasia
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schizencephaly
Schneckenbecken dysplasia
Scholte syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Schwannomatosis
Schwartz Jampel syndrome
Sclerosteosis
SCOT deficiency
Scott Bryant Graham syndrome
Scott syndrome
Sea-Blue histiocytosis
Seaver Cassidy syndrome
Sebaceous gland hyperplasia, familial presenile
Seckel like syndrome Majoor-Krakauer type
Seckel syndrome
Segmentation syndrome 1
Selective IgM deficiency
Semantic dementia
Semmekrot Haraldsson Weemaes syndrome
Sengers syndrome
Senior Loken Syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Septo-optic dysplasia spectrum
Sequeiros Sack syndrome
Seres-Santamaria Arimany Muniz syndrome
SERKAL syndrome
SeSAME syndrome
SETBP1 disorder
Severe achondroplasia with developmental delay and acanthosis nigricans
Severe combined immunodeficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe congenital nemaline myopathy
Severe congenital neutropenia autosomal recessive 3
Severe congenital neutropenia X-linked
Severe generalized recessive dystrophic epidermolysis bullosa
Severe intellectual disability-progressive spastic diplegia syndrome
Severe X-linked intellectual disability, Gustavson type
Sheldon-Hall syndrome
Short limb dwarf lethal Colavita Kozlowski type
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 4
Short stature deafness neutrophil dysfunction
Short stature syndrome, Brussels type
Short stature wormian bones dextrocardia
Short stature-craniofacial anomalies-genital hypoplasia syndrome
SHORT syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Shwachman-Diamond syndrome
Sialidosis type I
Sialidosis, type II
Sialuria, French type
Sickle beta thalassemia
Sickle cell - hemoglobin D disease
Sickle cell anemia
Sideroblastic anemia and mitochondrial myopathy
Siegler Brewer Carey syndrome
Silengo Lerone Pelizza syndrome
Sillence syndrome
Simosa cranio facial syndrome
Simpson-Golabi-Behmel syndrome
Single upper central incisor
Singleton-Merten syndrome
Sirenomelia
Sitosterolemia
Situs inversus
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sjogren-Larsson syndrome
Skeletal dysplasia, San Diego type
Skeletal dysplasias - Not a rare disease
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
Slow-channel congenital myasthenic syndrome
Small patella syndrome
Smith McCort dysplasia
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sneddon syndrome
Snowflake vitreoretinal degeneration
Snyder-Robinson syndrome
Sonoda syndrome
Sotos syndrome
Spasmodic dysphonia
Spastic ataxia Charlevoix-Saguenay type
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 32
Spastic paraplegia 4
Spastic paraplegia 51
Spastic paraplegia 5A
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Specific antibody deficiency
Spina bifida
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal muscular atrophy 1
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19 and 22
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 31
Spinocerebellar ataxia 34
Spinocerebellar ataxia 4
Spinocerebellar ataxia 5
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Splenogonadal fusion limb defects micrognatia
Split hand foot malformation
Split hand foot malformation 1
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split spinal cord malformation
Spondylocamptodactyly
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis 1 - See Spondylocostal dysostosis
Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
Spondylocostal dysostosis 5 - See Spondylocostal dysostosis
Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia Matrilin-3 related
Spondyloepimetaphyseal dysplasia micromelic
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia Sponastrime type
Spondyloepimetaphyseal dysplasia Strudwick type
Spondyloepimetaphyseal dysplasia with hypotrichosis
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia X-linked
Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
Spondyloepimetaphyseal dysplasia, Aggrecan type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia tarda X-linked
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylometaepiphyseal dysplasia short limb-hand type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia corner fracture type
Spondylometaphyseal dysplasia East-African type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal dysplasia type A4
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia X-linked
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia
Spondylospinal thoracic dysostosis
Spondylothoracic dysostosis
Sprengel deformity
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Stalker Chitayat syndrome
STAR syndrome
Stargardt disease
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Steinfeld syndrome
Sternal cleft
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type 3
Stiff person syndrome
Stiff skin syndrome
Stocco dos Santos syndrome
Stoll Alembik Finck syndrome
Stomatocytosis I
Striatonigral degeneration infantile
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Subaortic stenosis short stature syndrome
Subcortical band heterotopia
Succinic semialdehyde dehydrogenase deficiency
Sudden infant death with dysgenesis of the testes syndrome
Sugarman brachydactyly
Supernumerary nipple - Not a rare disease
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Supravalvular aortic stenosis
Swyer syndrome
Symphalangism with multiple anomalies of hands and feet
Syndactyly Cenani Lenz type
Syndactyly type 1
Syndactyly type 3
Syndactyly type 5
Syndactyly type 9
Syndactyly-polydactyly-earlobe syndrome
Syndromic microphthalmia, type 3
Syngnathia cleft palate
Syngnathia multiple anomalies
Synovial chondromatosis, familial with dwarfism
Syringomyelia
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Tabatznik syndrome
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
Talonavicular coalition
Tangier disease
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TAR syndrome
Tardive dyskinesia - Not a rare disease
TARP syndrome
Tarsal carpal coalition syndrome
Taurodontia, absent teeth, sparse hair syndrome
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Teebi Kaurah syndrome
Teebi Naguib Al Awadi syndrome
Teebi Shaltout syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Tel Hashomer camptodactyly syndrome
Telfer Sugar Jaeger syndrome
Temple syndrome
Temple-Baraitser syndrome
Temporal epilepsy, familial
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendons, extensor, of fingers, anomalous insertion of
Testotoxicosis
Tethered cord syndrome
Tetra-amelia syndrome
Tetraamelia multiple malformations X-linked
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetraamelia with pulmonary hypoplasia
Tetralogy of Fallot
Tetralogy of fallot and glaucoma
Tetramelic monodactyly
Tetraploidy
Tetrasomy 21
Tetrasomy 9p
Tetrasomy X
Thai symphalangism syndrome
Thakker-Donnai syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine responsive megaloblastic anemia syndrome
Thiopurine S methyltranferase deficiency
Thomas syndrome
Thompson Baraitser syndrome
Thoracic dysplasia hydrocephalus syndrome
Thoraco abdominal enteric duplication
Thoracolaryngopelvic dysplasia
Thoracomelic dysplasia
Thrombocytopathy asplenia miosis
Thumb deformity
Thumb deformity, alopecia, pigmentation anomaly
Thumb stiff brachydactyly mental retardation
Thymic-Renal-Anal-Lung dysplasia
Thyroid dysgenesis
Tibia absent polydactyly arachnoid cyst
Tietz syndrome
Tight skin contracture syndrome, lethal
Timothy syndrome
TMEM165-CDG (CDG-IIk)
Tollner Horst Manzke syndrome
Tolosa Hunt syndrome
Tonoki syndrome
Torg Winchester syndrome
Toriello-Carey syndrome
Torticollis keloids cryptorchidism renal dysplasia
Torticollis, familial
Total Hypotrichosis, Mari type
Townes-Brocks syndrome
Tracheal agenesis
Tranebjaerg Svejgaard syndrome
Transaldolase deficiency
Transient bullous dermolysis of the newborn
Transient infantile liver failure
Transient neonatal diabetes mellitus
Treacher Collins syndrome
Treacher Collins syndrome 3
Tricho-dento-osseous syndrome
Trichodental syndrome
Trichohepatoenteric syndrome
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichothiodystrophy
Tricuspid atresia
Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
Trigonocephaly bifid nose acral anomalies
Triosephosphate isomerase deficiency
Triphalangeal thumbs brachyectrodactyly
Triple A syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 13
Trisomy 17 mosaicism
Trisomy 18
Trisomy 2 mosaicism
Trisomy 3 mosaicism
Troyer syndrome
Tryptophanuria with dwarfism
Tuberous sclerosis
Tubular aggregate myopathy
Tucker syndrome
Tufted angioma
Tufting enteropathy
Tukel syndrome
Tumor necrosis factor receptor-associated periodic syndrome
Twenty-nail dystrophy
Tylosis with esophageal cancer
Type 1 plasminogen deficiency
Typical congenital nemaline myopathy
Tyrosine hydroxylase deficiency
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Ulerythema ophryogenesis
Ullrich congenital muscular dystrophy
Ulna and fibula, hypoplasia of
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar hypoplasia lobster claw deformity of feet
Ulnar-mammary syndrome
UMOD-related autosomal dominant tubulointerstitial kidney disease
Uncombable hair syndrome
Unverricht-Lundborg disease
Upington disease
Urachal cyst
Urogenital adysplasia
Uropathy distal obstructive polydactyly
Usher syndrome type 2A
Usher syndrome, type 1
UV sensitive syndrome
VACTERL association
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
Vagina, absence of
Vagneur Triolle Ripert syndrome
Van Benthem-Driessen-Hanveld syndrome
Van Buchem disease type 2
Van Den Bosch syndrome
Van der Woude syndrome
Van der Woude syndrome 2
Variegate porphyria
Vascular Ehlers-Danlos syndrome
Vascular hyalinosis
Vein of Galen aneurysm
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
Verloes Bourguignon syndrome
Verloes Van Maldergem Marneffe syndrome
Verloove Vanhorick Brubakk syndrome
Vibratory urticaria
Vici syndrome
Viljoen Kallis Voges syndrome
VLCAD deficiency
Vocal cord dysfunction familial
Vohwinkel syndrome
Von Hippel-Lindau disease
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wagner syndrome
WAGR syndrome
Walker-Warburg syndrome
Warfarin syndrome
Warman Mulliken Hayward syndrome
Watson syndrome
Weaver syndrome
Weill-Marchesani syndrome
Weinstein Kliman Scully syndrome
Weissenbacher-Zweymuller syndrome
Welander distal myopathy, Swedish type
Wells-Jankovic syndrome
Werner's syndrome
West syndrome
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
WHIM syndrome
Whistling face syndrome, recessive form
White forelock with malformations
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White sponge nevus of cannon
Wiedemann Oldigs Oppermann syndrome
Wildervanck syndrome
Williams syndrome
Wilms' tumor
Wilson disease
Wilson-Turner syndrome
Wiskott Aldrich syndrome
Witkop syndrome
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White syndrome - Not a rare disease
Wolfram syndrome
Wolman disease
Woodhouse Sakati syndrome
Woods Black Norbury syndrome
Woolly hair hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Worth type autosomal dominant osteosclerosis
Wrinkly skin syndrome
WT limb blood syndrome
Wyburn-Mason syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease
X-linked complicated corpus callosum agenesis - See L1 syndrome
X-linked complicated spastic paraplegia type 1 - See L1 syndrome
X-linked congenital generalized hypertrichosis
X-linked congenital stationary night blindness
X-linked creatine deficiency
X-linked dominant chondrodysplasia punctata 2
X-linked dystonia-parkinsonism/Lubag
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked ichthyosis
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
X-linked intellectual disability - short stature – obesity
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Turner type
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 1
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked non-specific intellectual disability
X-linked periventricular heterotopia
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked susceptibility to autism-4
X-linked thrombocytopenia
Xanthinuria type 1
Xanthinuria type 2
Xeroderma pigmentosum
XFE progeroid syndrome
Xia-Gibbs syndrome
XK aprosencephaly
Xp22.3 microdeletion syndrome
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji Okuno syndrome
Young syndrome
Yunis-Varon syndrome
Zadik Barak Levin syndrome
ZAP-70 deficiency
Zazam Sheriff Phillips syndrome
Zechi Ceide syndrome
Zellweger syndrome
Zlotogora syndrome
Zori Stalker Williams syndrome
ZTTK syndrome
Zunich neuroectodermal syndrome
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