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22q11 Deletion Syndrome +
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alpha-B Crystallinopathy with Cataract
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Arthrogryposis Multiplex Congenita Whistling Face
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
ataxia with oculomotor apraxia type 3
Ataxia-Microcephaly-Cataract Syndrome
ataxia-oculomotor apraxia type 4
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axenfeld-Rieger syndrome type 1
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Bhaskar Jagannathan Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Bothnia retinal dystrophy
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
calvarial doughnut lesions with bone fragility
Camptodactyly Syndrome Guadalajara Type 2
Camurati-Engelmann disease +
Cardioacrofacial Dysplasia +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 34 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 46 juvenile-onset
cataract 5 multiple types
Cataract 50 with or without Glaucoma
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
Cataract, Congenital Dominant Non Nuclear
Cataract, Cortical Pulverulent, Late-Onset
Cataract, Crystalline Coralliform
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataract, Polymorphic and Lamellar
Cataract, Posterior Polar, 5
Cataract, Progressive Polymorphic Cortical
Cataract, Sutural, with Punctate and Cerulean Opacities
Cataract, Variable Zonular Pulverulent
Cataract, Zonular Central Nuclear
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
Cavitary Optic Disc Anomalies
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
combined oxidative phosphorylation deficiency 2
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital fibrosis of the extraocular muscles 5
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital muscular dystrophy with cataracts and intellectual disability
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Cornea Guttata with Anterior Polar Cataract
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Czech Dysplasia, Metatarsal Type
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Diaphanospondylodysostosis
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 6
Diverticulosis of Bowel, Hernia, and Retinal Detachment
Duane retraction syndrome +
Dyschondrosteosis and Nephritis
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
exudative vitreoretinopathy +
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
familial benign fleck retina
Familial Osteodysplasia, Anderson Type
Familial Partial Lipodystrophy Type 7
Faye-Petersen Ward Carey Syndrome
fetal encasement syndrome
Fibrous Dysplasia of Bone +
Foveal Hypoplasia with Anterior Segment Anomalies
Fraser Jequier Chen Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Ghosal hematodiaphyseal syndrome
Glaucoma 1, Open Angle, P
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Grouped Pigmentation of the Macula
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
Hengel-Maroofian-Schols syndrome
hereditary night blindness +
Hereditary Optic Atrophies +
hereditary retinal dystrophy +
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
Histiocytic Dermatoarthritis
Humeroradial Synostosis with Craniofacial Anomalies
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hyperostosis Frontalis Interna
hypertrichotic osteochondrodysplasia Cantu type
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 26
hypomyelinating leukodystrophy 5
hypoparathyroidism-retardation-dysmorphism syndrome
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Iris Pigment Epithelium Anomalies
Isolated Microphthalmia with Cataract 1
Isolated Microphthalmia with Cataract 2
Isolated Microphthalmia with Cataract 3
Isolated Microphthalmia with Cataract 4
ITM2B-related cerebral amyloid angiopathy 2
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Karandikar Maria Kamble Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Lattice Degeneration of Retina Leading to Retinal Detachment
Leber congenital amaurosis +
Leg, Absence Deformity of, with Congenital Cataract
Leichtman Wood Rohn Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
linear skin defects with multiple congenital anomalies 2
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Marinesco-Sjogren syndrome
Maxillofacial Abnormalities +
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
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
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly and Chorioretinopathy +
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
Micromelic Dwarfism Fryns Type
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microphthalmia, Cataracts, and Iris Abnormalities
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Miura type epiphyseal chondrodysplasia
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myopathy, Cataract, Hypogonadism Syndrome
Nablus Mask-Like Facial Syndrome
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculoskeletodental Syndrome
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma and congenital alopecia 2
Pavone Fiumara Rizzo Syndrome
Pelvis-Shoulder Dysplasia
Peripapillary Atrophy, Beta Type
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Peters Anomaly with Cataract
pigmented paravenous chorioretinal atrophy
Polycystic Kidney, Cataract, and Congenital Blindness
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
PORETTI-BOLTSHAUSER SYNDROME
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
Premature Aging, Okamoto Type
primary congenital glaucoma +
progressive pseudorheumatoid arthropathy of childhood
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radial Drusen, Autosomal Dominant
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Remitting Chorea with Nystagmus and Cataracts
renal hypomagnesemia 5 with ocular involvement
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Early Onset Severe +
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinohepatoendocrinologic Syndrome
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Short Stature and Facioauriculothoracic Malformations
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simosa Cranio Facial Syndrome
Singh Chhaparwal Dhanda Syndrome
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slavotinek Pike Mills Hurst Syndrome
Slipped Capital Femoral Epiphyses
Spinal Dysplasia, Anhalt Type
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepiphyseal dysplasia +
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stickler Syndrome, Type I, Nonsyndromic Ocular
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Stuve-Wiedemann Syndrome +
syndromic microphthalmia 2
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Teebi hypertelorism syndrome +
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome 2
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tollner Horst Manzke Syndrome
Tracheobronchopathia Osteoplastica
trichodontoosseous syndrome
Trichorhinophalangeal Syndrome +
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Ulna Metaphyseal Dysplasia Syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
vitelliform macular dystrophy +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
X-Linked Macular Dystrophy +
Zimmerman Laband Syndrome +
Zonular Cataract and Nystagmus
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