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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Absence of Tibia with Congenital Deafness
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Albinism Deafness Syndrome
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
asphyxiating thoracic dystrophy +
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant nonsyndromic deafness 65
Blepharoptosis, Myopia, and Ectopia Lentis
Branchiogenic-Deafness Syndrome
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cardioauditory Syndrome of Sanchez Cascos
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Cochlear Deafness with Myopia and Intellectual Impairment
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Congenital Deafness and Familial Myoclonic Epilepsy
Congenital Deafness, with Vitiligo and Achalasia
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
Congenital Micromelic Dysplasia with Dislocation of Radius +
Congenital Myopathy with Neuropathy and Deafness
congenital stationary night blindness +
Czech Dysplasia, Metatarsal Type
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy
Davenport Donlan Syndrome
Deafness Hyperuricemia Neurologic Ataxia
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness, Autosomal Dominant, due to Mutation In Myo1a
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Congenital Onychodystrophy, Recessive Form
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Deafness, with Smith-Magenis Syndrome
diaphyseal medullary stenosis with malignant fibrous histiocytoma
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Dyschondrosteosis and Nephritis
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
External Ophthalmoplegia and Myopia
Familial Osteodysplasia, Anderson Type
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Frontootopalatodigital Osteodysplasia
Ghosal hematodiaphyseal syndrome
hereditary spastic paraplegia 24
high myopia-sensorineural deafness syndrome
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Hyperlipoproteinemia Type II, and Deafness
Hyperostosis Frontalis Interna
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
hypertrichotic osteochondrodysplasia Cantu type
Hypokalemic Tubulopathy and Deafness
hypomyelinating leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Isolated Microphthalmia with Corectopia
ITM2B-related cerebral amyloid angiopathy 2
Jequier Kozlowski Skeletal Dysplasia
Johnson Neuroectodermal Syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Keratitis-Ichthyosis-Deafness Syndrome +
Konigsmark Knox Hussels Syndrome
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
Lynch Lee Murday syndrome
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Camera Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Meyenburg-Altherr-Uehlinger Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephaly Deafness Syndrome
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Miura type epiphyseal chondrodysplasia
Mousa Al din Al Nassar Syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
multiple epiphyseal dysplasia with myopia and deafness
multiple synostoses syndrome 1
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonus, Cerebellar Ataxia, and Deafness
Myopia 17, Autosomal Dominant
Myopia 18, Autosomal Recessive
Myopia 19, Autosomal Dominant
Myopia 20, Autosomal Dominant
Myopia 21, Autosomal Dominant
Myopia 22, Autosomal Dominant
Myopia 23, Autosomal Recessive
Myopia 24, Autosomal Dominant
Myopia 25, Autosomal Dominant
Myopia 26, X-Linked, Female-Limited
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Night Blindness Skeletal Anomalies Unusual Facies
Noble Bass Sherman Syndrome
Noninsulin-Dependent Diabetes Mellitus with Deafness
Opticocochleodentate Degeneration
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Polydactyly Myopia Syndrome
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
progressive pseudorheumatoid arthropathy of childhood
Ramos Arroyo Clark Syndrome
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Ribbonlike Corneal Degeneration with Deafness
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schlegelberger Grote Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Secretory Diarrhea, Myopathy, and Deafness
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Silverman-Handmaker type dyssegmental dysplasia
Sinoatrial Node Dysfunction and Deafness
Sinus Node Disease and Myopia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
spastic paraplegia with deafness
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stuve-Wiedemann Syndrome +
Teebi Naguib Al Awadi syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
Ulna Metaphyseal Dysplasia Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
X-linked mental retardation Gustavson type
X-linked mental retardation-hypotonic facies syndrome-1
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
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