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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
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
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
Diffuse Mesangial Sclerosis
Disproportionate Tall Stature
Dysplasia Epiphysealis Hemimelica +
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
Hereditary Sclerosing Poikiloderma +
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 +
Membranous Cranial Ossification, Delayed
Mesomelic Limb Shortening and Bowing
Miura type epiphyseal chondrodysplasia
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
nephrotic syndrome type 5
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
nevoid basal cell carcinoma syndrome +
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Premature Ovarian Failure, Familial +
primary ovarian insufficiency 1
primary ovarian insufficiency 10
primary ovarian insufficiency 11
primary ovarian insufficiency 12
primary ovarian insufficiency 13
primary ovarian insufficiency 14
primary ovarian insufficiency 15
primary ovarian insufficiency 16
primary ovarian insufficiency 17
primary ovarian insufficiency 18
primary ovarian insufficiency 19
Primary Ovarian Insufficiency 20
Primary Ovarian Insufficiency 21
Primary Ovarian Insufficiency 22
Primary Ovarian Insufficiency 25
primary ovarian insufficiency 2A
primary ovarian insufficiency 2B
primary ovarian insufficiency 3
primary ovarian insufficiency 4
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
primary ovarian insufficiency 8
primary ovarian insufficiency 9
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
Sclerosing Bone Dysplasia, Mental Retardation
Sclerosing Lymphocytic Lobulitis
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
Trichoodontoonychial Dysplasia
Ullrich congenital muscular dystrophy +
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Wiedemann Oldigs Oppermann Syndrome
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