Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

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dysmorphism camptodactyly Epiphyseal dysplasia Fairbank Patterned dystrophy of retinal Brain lymphoma type conical teeth pigment epithelium butterfly-shaped pigmentary Partial Duplication 15q Syndrome Brain Stem neoplasms Fairbank disease cleft lip and or palate Macular dystrophy distal trisomy 15q Chromosome 15 Fairbank multiple epiphyseal Macular dystrophy butterfly- Brain stem tumor dysplasia Ectropion inferior shaped pigmentary Chromosome 15 Trisomy 15q2 Dysplasia epiphysealis Butterfly dystrophy of retinal Branched chain ketoaciduria multiplex cleft lip and palate pigment epithelium trisomy 16p Chromosome 16 Branched-chain alpha-keto acid Epiphyseal dysplasia hearing Butterfly-shaped pigment dehydrogenase deficiency loss dysmorphism Elsching syndrome dystrophy of the fovea Duplication 16p Epiphyseal dysplasia Patterned dystrophy of the retinal BCKD deficiency microcephaly nystagmus Blepharo-cheilo-dontic syndrome pigment epithelium Patterson Stevenson Fontaine Trisomy 16p Keto acid decarboxylase deficiency Lowry wood syndrome Clefting syndrome Split-foot deformity with ectrodactyly and mandibulofacial Trisomy 16q MSUD Ovarian cancer epithelial Lagophthalmia cleft lip palate dysostosis Patterson-Lowry rhizomelic Duplication 16q Maple syrup urine disease Ovarian epithelial cancer Laing distal myopathy dysplasia trisomy 16q Chromosome 16 Branchial arch defects EOC Lambdoid synostosis familial Patterson Lowry syndrome Trisomy 17 epithelial with skin and skeletal Rhizomelic dysplasia Patterson Branchial arch syndrome changes Corneal dystrophy lambdoidal Craniosynostosis Lowry type Chromosome 17 trisomy Corneal dystrophy epithelial Patterson's leprechaunoid Branchial arch syndrome X-linked with skin and skeletal changes Craniosynostosis lambdoidal syndrome Chromosome 17 duplication Branchial dysplasia mental Corneodermatoosseous Patterson pseudoleprechaunism retardation inguinal hernia syndrome Lambert syndrome syndrome Trisomy 17 mosaicism Branchio oculo facial syndrome Hing Lambert-Eaton myasthenic type CDO syndrome Corneal dystrophy epithelial syndrome pavm Trisomy 17p Branchio-oculo-facial syndrome and short stature Lambotte syndrome holoprosencephaly and intrauterine PAVF Duplication 17p Branchiootic syndrome Epithelio-exfoliative colitis growth retardation Microcephaly Pulmonary AVM Arteriovenous malformation trisomy 17p Chromosome 17 BO syndrome 1 Epithelioid sarcoma lamellar Cataract pulmonary Trisomy 17p11 2 Epithelioma calcificans of pulmonary Arteriovenous Branchiootic dysplasia Malherbe Cataract lamellar malformation trisomy 17p11 2 Chromosome 17 BOS1 EPM2 Epilepsy progressive Perinuclear cataract Pulmonary arteriovenous fistula Duplication 17p11 2 Branchio-otic syndrome myoclonic 2 zonular Cataract Pavone fiumara rizzo syndrome mental retardation bilateral syndactyly of the 3rd and 4th Trisomy 17p11.2 Branchio-Oto-Renal Duane fingers and bilateral partial hydrocephalus contiguous gene syndactyly of 2nd and 3rd toes syndrome Myoclonic epilepsy of Lafora Lamellar ichthyosis type 1 Congenital cataracts Congenital cataracts mental retardation bilateral syndactyly of the 3rd and 4th fingers and Duplication 17p11.2 Bor-Duane hydrocephalus bilateral partial syndactyly of 2nd contiguous gene syndrome Lafora disease Lamellar ichthyosis and 3rd toes Syndactyly type 1 with cataracts Trisomy 17q22 Branchiootorenal syndrome 2 MELF Collodion fetus and mental retardation trisomy 17q22 Chromosome 17 BOR2 Lafora body disorder Desquamation of newborn pcarp Duplication 17q Erb type Muscular dystrophy Posterior column ataxia and Branchio-skeleto-genital syndrome limb girdle type 2A type 1 Lamellar ichthyosis retinitis pigmentosa Trisomy 18pter Brazilian type Acheiropody Erb-Goldflam syndrome Lamellar exfoliation of newborn PCH-1 Distal duplication 18p Acheiropodia Congenital MG Myasthenia gravis Ichthyosis congenita Pontocerebellar hypoplasia type 1 Telomeric duplication 18p Acheiropody Brazilian type pseudoparalytica Lamellar recessive ichthyosis PCI deficiency Obesity due to prohormone Distal trisomy 18p Acheiropody Myasthenia gravis congenital Landing disease convertase-I deficiency Trisomy 18qter Breast and ovarian cancer Erdheim disease GM1 gangliosidosis PCKD Distal duplication 18q Breast angiosarcoma Erdheim-Chester disease Landouzy-Dejerine myopathy PKD Distal trisomy 18q Angiosarcoma of the breast Erdheim-Chester syndrome Eronen Somer Gustafsson Landy Donnai syndrome Polycystic kidney disease Telomeric duplication 18q BRESEK syndrome syndrome Eronen-Somer-Gustafsson Langer-Giedion syndrome PCNSL Trisomy 19pter BRESHECK syndrome syndrome Erosive pustular dermatosis of Deletion 8q24.1 Primary lymphoma CNS Distal trisomy 19p BrightÆs Disease the scalp Monosomy 8q24.1 CNS Primary lymphoma primary Central nervous system Telomeric duplication 19p Bright disease Erythema multiforme Langerhans cell sarcoma lymphoma Distal duplication 19p Brittle bone syndrome lethal type erythermalgia Laparoschisis Laplane fontaine lagardere PCO Trisomy 19q Broad beta disease broad big toes and ulnar polydactyly Hirschsprung's disease associated Primary erythermalgia syndrome Stein-Leventhal syndrome trisomy 19q Chromosome 19 with congenital heart malformation Hirschsprung's disease associated with ulnar polydactyly polysyndactyly of big toes and ventricular septal Erythromelalgia Large B cell diffuse lymphoma Polycystic ovarian disease Duplication 19q defect polysyndactyly of big toes and ventricular septal defect Hirschsprung's disease associated Erythroblastopenia Large cell immunoblastic lymphoma PCOD Trisomy 1q32 qter with ulnar polydactyly Erythroderma desquamativa Erythroderma desquamativa of large-cell immunoblastic Lymphoma PCR Duplication 1q32 qter Laurence Prosser Rocker syndrome Leiner Large cell lymphoma Primary cortisol resistance trisomy 1q32 qter Chromosome 1 Hirschsprung's disease associated Large cell lymphoma which with congenital heart malformation Erythroderma Desquamativum develops after treatment for chronic broad big toes and ulnar polydactyly of Infancy diarrhea and failure to thrive lymphocytic leukemia (CLL) PCTT trisomy 1q42 qter Chromosome 1 broad thumbs Generalized erythroderma Leiner-Moussous Richter syndrome Hereditary pancreatitis Duplication 1q42 qter Tsao-Ellingson syndrome Desquamative Erythroderma Generalized erythroderma Large gyri of cerebrum Chronic pancreatitis Trisomy 1q42 qter Broad-betalipoproteinemia diarrhea and failure to thrive Broad gyri of cerebrum Pearson syndrome Pearson's marrow-pancreas Trisomy 2 & 5 pseudomosaicism Brocq-Duhring disease Erythroderma lethal congenital Pachygyria syndrome Trisomy 2 mosaicism 229

Congenital exfoliative Sideroblastic anemia with marrow erythroderma resistant to cell vacuolization and exocrine Brody myopathy treatment Large vestibular aqueduct syndrome pancreatic dysfunction Trisomy 20pter Autosomal recessive Brody Enlarged vestibular aqueduct myopathy Lethal congenital erythroderma syndrome peculiar facies Telomeric duplication 20p Bronchial endocrine tumour Erythrokeratodermia Laron syndrome Accelerated skeletal maturation Pediatric Autoimmune Neuropsychiatric Disorders Distal trisomy 20p Short stature due to growth hormone Associated with Streptococcal Bronchial carcinoid tumour Darier-Gottron disease resistance Laron syndrome due to postreceptor infections Distal duplication 20p Bronchial neuroendocrine tumour Erythrokeratodermia ataxia defect pandas Pediatric Autoimmune Trisomy 22 Erythrokeratodermia Neuropsychiatric Disorders progressive symmetrica Associated with Streptococcus Bronchiectasis ichthyosis Laron syndrome type 2 infections Paediatric Autoimmune Disorders trisomy Chromosome 22 bronchiectasis and sinusitis Erythrokeratodermia Associated with Streptococcus Dextrocardia symmetrica progressiva Erythrokeratodermia variabilis LTD 2 infections Duplication 22 Kartagener syndrome ichthyosis Erythrokeratodermia with Laron type dwarfism 2 Pediatric Crohn's disease Trisomy 22q11 Siewert syndrome ataxia Laron-type dwarfism Pediatric onset Crohn's disease Duplication 22q11 Dextrocardia bronchiectasis and Larsen like osseous dysplasia sinusitis Giroux Barbeau Syndrome erythrokeratolysis hemalis dwarfism pediatric CrohnÆs disease Trisomy 22q11 q13 Bronchiectasis oligospermia Ichthyosis Larsen syndrome pediatric Ulcerative colitis trisomy q11 q13 Chromosome 22 Bronchiolitis obliterans organizing Erythrokeratolysis hiemalis pneumonia Bronchiolitis obliterans with ichthyosis Larsen syndrome craniosynostosis Ulcerative colitis pediatric Duplication 22q11 q13 obstructive pulmonary disease Oudtshoorn skin Larsen-like syndrome Laryngeal abductor paralysis mental Pelger-Huet anomaly trisomy 26-28 X chromosome Bronchogenic cyst Keratolytic winter erythema retardation Laryngeal and pharyngeal PHA Trisomy 2p Bronchopneumopathy KWE hypoplasia with omphalocele Pelizaeus-Merzbacher disease trisomy 2p Chromosome 2 Antigen-peptide-transporter Shprintzen-Goldberg omphalocele Pelizaeus-Merzbacher like brain deficiency Erythroplakia syndrome sclerosis Cerebral sclerosis similar to Duplication 2p Bronchopulmonary amyloidosis Escher Hirt syndrome Laryngeal cancer Pelizaeus-Merzbacher disease trisomy 2p13 p21 Chromosome 2 Bronspiegel-Zelnick syndrome Esophageal atresia esophageal atresia and right cryptorchidism Bilateral Laryngeal neoplasm Pellagra Duplication 2p13 p21 intestinal lymphangiectasia anophthalmia Laryngeal carcinoma Pellagra like syndrome Trisomy 2p13 p21 Arroyo Garcia Cimadevilla Laryngeal web congenital heart Pellagra-like rash with neurologic Bronze Schilder disease syndrome disease and low stature manifestations trisomy 2q37 Chromosome 2 Bilateral anophthalmia Pelvic dysplasia associated with esophageal atresia and right congenital heart disease and low arthrogrypotic changes in the Schilder-Addison complex cryptorchidism stature Subglottic bar lower extremities Trisomy 2q37 Addison disease and cerebral Esophageal atresia associated Subglottic bar congenital heart and arthrogrypotic changes in the sclerosis anomalies disease and low stature lower limbs Pelvic hypoplasia Pelvic hypoplasia and Duplication 2q37 Esophageal atresia coloboma congenital heart disease and low arthrogrypotic changes in the Melanodermic leukodystrophy talipes stature Laryngeal web lower limbs Trisomy 3 Laryngeal web congenital heart Pelvic hypoplasia with Siemerling-Creutzfeldt disease Esophageal carcinoma disease short stature arthrogryposis of lower limbs Trisomy 3 mosaicism Laryngo onycho cutaneous Pelvic dysplasia arthrogryposis of AMN Esophageal disorder syndrome lower limbs Trisomy 3q13 2 q25 Esophageal duodenal atresia Pelvic hypoplasia with lower limb Adrenomyeloneuropathy abnormalities of hands Logic syndrome Laryngeal and ocular granulation in arthrogryposis trisomy 3q13 2 q25 Chromosome 3 ALD Esophageal neoplasm indian children Pelvic lipomatosis Excess of mature unencapsulated Duplication 3q13.2 q25 X-linked adrenoleukodystrophy Esophageal varices Laryngocele fatty tissue in the pelvis Trisomy 3qter Adrenoleukodystrophy Esotropia Laryngomalacia dominant congenital Laryngo-tracheo-esophageal cleft Pelvic shoulder dysplasia Telomeric duplication 3q 28A Essential benign fructosuria pulmonary hypoplasia Pelviscapular dysplasia Distal trisomy 3q Brooke-Spiegler syndrome Hepatic fructokinase deficiency Larynx atresia Pelvis-shoulder dysplasia Distal duplication 3q Ancell-Spiegler cylindromas Ketohexokinase deficiency Late onset dominant cone dystrophy late onset Multiple carboxylase Scapuloiliac dysostosis Trisomy 4 Spiegler-Brooke syndrome Fructosuria deficiency Late onset sepsis in premature Pemphigus foliaceus Trisomy 4p Brown syndrome Essential Familial Hyperlipemia infants Pemphigus paraneoplastic trisomy 4q Chromosome 4 Brown-Vialetto-van Laere syndrome Hyperchylomicronemia familial Late onset tylosis (type A) Pemphigus superficial Duplication 4q Familial hyperlipoproteinemia Focal non epidermolytic pontobulbar palsy type 1 palmoplantar keratoderma Pemphigus vulgaris Trisomy 4q Brucellosis Hyperlipemia essential familial essential iris atrophy Iridocorneal endothelial (ICE) Early onset tylosis (type B) Pena Shokeir syndrome Type 2 trisomy 4q21 Chromosome 4 Rock fever syndrome Familial tylosis (subtype) Pena-Shokeir syndrome type 2 Duplication 4q21 Progressive essential iris Hyperkeratosis of the palms and Cerebro oculo facio skeletal Gibraltar fever atrophy soles and esophageal papillomas syndrome Trisomy 4q21 Undulant fever Essential iris atrophy ICE syndrome essential iris Latent (type) COFS syndrome Trisomy 4q25 qter Malta fever atrophy type essential iris atrophy type ICE Congenital (type) Penile curvature trisomy 4q25 qter Chromosome 4 Cyprus fever syndrome secondary Syphilis Peyronie disease Duplication 4q25 qter Iridocorneal endothelial (ICE) Trisomy 5p Complete (5p11-pter) Bruck syndrome 1 syndrome essential iris atrophy Syphilis primary Penis agenesis Chromosome 5 Osteogenesis imperfecta with Chromosome 5 Trisomy 5p congenital joint contractures Essential thrombocytopenia Syphilis Agenesis of the penis Complete (5p11-pter) BRKS1 Essential thrombocytosis Syphilis secondary Penis agenesia trisomy 5p Chromosome 5 Essential tremors nystagmus Trisomy 5p Partial (5p13 or 14-pter) Bruyn Scheltens syndrome and duodenal ulceration nystagmus and duodenal primary Syphilis Penoscrotal transposition Chromosome 5 BSG syndrome ulceration Essential tremors Syphilis tertiary Prepenile scrotum Chromosome 5p- syndrome nystagmus and duodenal Late-onset Fuchs' endothelial Congenital transposition of the Chromosome 5 Trisomy 5p Partial Brachioskeletogenital syndrome ulcers Tremors corneal dystrophy penis Penttinen type Progeroid (5p13 or 14-pter) BSPDC ESTH FECD2 syndrome Trisomy 5pter 230