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acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Adrenocortical Hypofunction, Chronic Primary Congenital
adrenocorticotropic hormone deficiency
advanced sleep phase syndrome 3
age related macular degeneration 8
Alpha-2-Deficient Collagen Disease
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
apparent mineralocorticoid excess syndrome
atrial heart septal defect 3
atrial heart septal defect 4
autoimmune lymphoproliferative syndrome +
Brachydactyly Type E, with Atrial Septal Defect, Type II
brachydactyly type E1 A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptosynpolydactyly, Complex
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
cataract 26 multiple types
Cenani-Lenz syndactyly syndrome
Chitayat Meunier Hodgkinson Syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
Cleft Palate, Deafness, and Oligodontia
cold-induced sweating syndrome +
complement factor I deficiency
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
complex cortical dysplasia with other brain malformations 7
congenital hemolytic anemia +
Congenital Hepatic Fibrosis
congenital hypoplastic anemia +
congenital muscular dystrophy +
congenital myasthenic syndrome +
Congenital Pain Insensitivity +
congenital vertical talus
Cranioacrofacial Syndrome
Craniosynostosis, Adelaide Type
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
desquamative interstitial pneumonia
distal arthrogryposis type 3
Dwarfism Stiff Joint Ocular Abnormalities
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Exostoses with Anetodermia and Brachydactyly Type E
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Familial Dysalbuminemic Hyperthyroxinemia
Familial Hemophagocytic Lymphohistiocytoses +
familial hypertrophic cardiomyopathy +
Familial Lipochrome Histiocytosis
Familial Mixed Cryoglobulinemia
Familial Temporal Epilepsy +
Femur Bifid with Monodactylous Ectrodactyly
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
frontotemporal dementia and/or amyotrophic lateral sclerosis-3
frontotemporal dementia and/or amyotrophic lateral sclerosis-4
Game Friedman Paradice Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
hand-foot-genital syndrome
Heart-Hand Syndrome, Slovenian Type
Hereditary Bilateral Parotidomegaly
Hereditary Eye Diseases +
Hereditary Neoplastic Syndromes +
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
hypogonadotropic hypogonadism 5 with or without anosmia +
inherited metabolic disorder +
Isolated Prolactin Deficiency
Mammary-Digital-Nail Syndrome
Metaphyseal Acroscyphodysplasia
Microcephaly with Mental Retardation and Digital Anomalies
Mononen-Karnes-Senac syndrome
Monophalangy of Great Toe
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Nervous System Heredodegenerative Disorders +
Neurofaciodigitorenal Syndrome
Nicolaides Baraitser Syndrome
Nonimmune Chronic Idiopathic Neutropenia, Adult
oculodentodigital dysplasia +
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
otopalatodigital syndrome spectrum disorder +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Patterson Stevenson Syndrome
Pfeiffer Tietze Welte Syndrome
Postaxial Polydactyly, with Dental and Vertebral Anomalies
primary hypertrophic osteoarthropathy +
Progeroid Facial Appearance with Hand Anomalies
progressive familial intrahepatic cholestasis +
Pseudotrisomy 13 Syndrome
pulmonary alveolar microlithiasis
Radial Defect Robin Sequence
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Ray Peterson Scott Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Rozin Hertz Goodman Syndrome
Sacral Agenesis with Vertebral Anomalies
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Say Field Coldwell syndrome
Schinzel-Giedion Syndrome
Second Metatarsal-Metacarpal Syndrome
Split Hand Split Foot Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Stoll Alembik Dott Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndromic microphthalmia 8
Synpolydactyly with Foot Anomalies
tarsal-carpal coalition syndrome +
Tel Hashomer Camptodactyly Syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
Tollner Horst Manzke Syndrome
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Ulnar Hypoplasia Lobster Claw Deformity of Feet
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Ventricular Extrasystoles Perodactyly Robin Sequence
Walbaum Titran Durieux Crepin Syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Zimmerman Laband Syndrome +
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