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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
autoimmune disease of central nervous system +
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects
Baby Rattle Pelvis Dysplasia
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Brachymesomelia Renal Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Central Nervous System Infections +
Central Nervous System Neoplasms +
Cervical Vertebral Dysplasia
Conductive Deafness with Ptosis and Skeletal Anomalies
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Tall Stature
Dysplasia Epiphysealis Hemimelica +
endocrine-cerebro-osteodysplasia syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
high pressure neurological syndrome
HYPOPLASTIC FEMURS AND PELVIS
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 +
maturity-onset diabetes of the young type 5
Membranous Cranial Ossification, Delayed
Mesomelic Limb Shortening and Bowing
Miura type epiphyseal chondrodysplasia
neurodegenerative disease +
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
nevoid basal cell carcinoma syndrome +
ocular motility disease +
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Radius Absent Anogenital Anomalies
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
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
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
Striatal Degeneration, Autosomal Dominant +
Subacute Cerebellar Degeneration
Subacute Combined Degeneration
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Wiedemann Oldigs Oppermann Syndrome
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