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Abruzzo-Erickson syndrome
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Angel Shaped Phalangoepiphyseal Dysplasia
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
Baby Rattle Pelvis Dysplasia
Baraitser-Winter syndrome +
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Blepharoptosis, Myopia, and Ectopia Lentis
Brachymesomelia Renal Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cervical Vertebral Dysplasia
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism
Cleft Palate, Deafness, and Oligodontia
Cochlear Deafness with Myopia and Intellectual Impairment
Conductive Deafness with Malformed External Ear
Conductive Deafness with Ptosis and Skeletal Anomalies
Conductive Stapedial Deafness with Ear Malformation and Facial Palsy
congenital fibrosis of the extraocular muscles 2
Congenital Myasthenic Syndrome, with Facial Dysmorphism
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Disproportionate Tall Stature
Dysplasia Epiphysealis Hemimelica +
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
HYPOPLASTIC FEMURS AND PELVIS
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
mandibuloacral dysplasia +
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant
Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia
McPherson Robertson Cammarano Syndrome
Mehta Lewis Patton Syndrome
Membranous Cranial Ossification, Delayed
Mengel Konigsmark Syndrome
Mesomelic Limb Shortening and Bowing
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Microtia, Meatal Atresia and Conductive Deafness
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones
Miura type epiphyseal chondrodysplasia
multiple epiphyseal dysplasia with myopia and deafness
Neural Deafness with Atypical Atopic Dermatitis
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
nevoid basal cell carcinoma syndrome +
Oliver-McFarlane syndrome
Ophthalmoplegia Totalis with Ptosis and Miosis
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Posterior Lumbosacral Vertebral Fusion with Blepharoptosis
Progressive Deafness with Stapes Fixation
Ptosis, Strabismus, and Ectopic Pupils
Radius Absent Anogenital Anomalies
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Roifman-Chitayat Syndrome
Schweitzer Kemink Graham Syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHOX-related short stature
Shwachman-Diamond Syndrome 2
Siegler Brewer Carey Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stoll Levy Francfort Syndrome
Treft Sanborn Carey Syndrome
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Wiedemann Oldigs Oppermann Syndrome
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