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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
autosomal recessive pericentral pigmentary retinopathy
Baby Rattle Pelvis Dysplasia
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Bork Stender Schmidt Syndrome
Brachymesomelia Renal Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cervical Vertebral Dysplasia
Chang Davidson Carlson Syndrome
Chromosome Xp11.3 Deletion Syndrome
Concentric Annular Macular Dystrophy
Conductive Deafness with Ptosis and Skeletal Anomalies
Cone Rod Dystrophy Amelogenesis Imperfecta
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Tall Stature
dominant pericentral pigmentary retinopathy
Dysplasia Epiphysealis Hemimelica +
Furukawa Takagi Nakao Syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
HYPOPLASTIC FEMURS AND PELVIS
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
isolated microphthalmia 5
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
late-adult onset retinitis pigmentosa
Leber congenital amaurosis 14
Leber congenital amaurosis 3
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
Macular Dystrophy with Central Cone Involvement
mandibuloacral dysplasia +
Membranous Cranial Ossification, Delayed
Mesomelic Limb Shortening and Bowing
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Mirhosseini-Holmes-Walton Syndrome
Miura type epiphyseal chondrodysplasia
multiple congenital anomalies-hypotonia-seizures syndrome 3
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
nevoid basal cell carcinoma syndrome +
Newfoundland cone-rod dystrophy
Oliver-McFarlane syndrome
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Peripheral Cone Dystrophy
Pigmentary Retinopathy and Sensorineural Deafness
Progressive Pallidal Degeneration with Retinitis Pigmentosa
Radioulnar Synostosis Retinal Pigment Abnormalities
Radius Absent Anogenital Anomalies
retinal cone dystrophy 3A
retinal cone dystrophy 3B
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
retinitis pigmentosa Y-linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinitis Pigmentosa, Late-Onset Dominant
Retinopathy-sensory neuropathy syndrome
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
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
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 +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
short-rib thoracic dysplasia 9 with or without polydactyly
SHOX-related short stature
Shwachman-Diamond Syndrome 2
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
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
spondylometaphyseal dysplasia with cone-rod dystrophy
Spranger Schinzel Myers Syndrome
Stoll Levy Francfort Syndrome
Tapetoretinal Degeneration with Ataxia
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Wiedemann Oldigs Oppermann Syndrome
X-Linked Cone Dystrophy with Tapetal-like Sheen
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-linked retinitis pigmentosa and sinorespiratory infections
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