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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
adult-onset myofibrillar myopathy 2A
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Alpha-B Crystallinopathy with Cataract
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
anterior segment dysgenesis 4
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant congenital deafness with onychodystrophy
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axenfeld-Rieger syndrome type 1
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Bhaskar Jagannathan Syndrome
blepharocheilodontic syndrome +
brachycephaly, trichomegaly, and developmental delay
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
Carabelli Anomaly of Maxillary Molar Teeth
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
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
cerebellofaciodental syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
chromosome 17q11.2 deletion syndrome
chromosome 5p13 duplication 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, Forme Fruste, Dental Anomalies Only
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
cold-induced sweating syndrome +
combined or isolated pituitary hormone deficiency 1
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
congenital disorder of deglycosylation 2
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital muscular dystrophy with cataracts and intellectual disability
Cornea Guttata with Anterior Polar Cataract
Cortical Blindness, Retardation, and Postaxial Polydactyly
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniosynostosis and Dental Anomalies
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Cyprus Facial Neuromusculoskeletal Syndrome
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness-Craniofacial Syndrome
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
dental enamel hypoplasia +
dentinogenesis imperfecta +
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
developmental delay, dysmorphic facies, and brain anomalies
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis
diphthamide deficiency syndrome 2
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation Syndrome
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Euhidrotic Ectodermal Dysplasia
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
Familial Partial Lipodystrophy Type 7
Feingold Trainer Syndrome
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
FISCHER-ZIRNSAK PROGEROID SYNDROME
Gingival Fibromatosis with Distinctive Facies
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben-De Cock-Borghgraef Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary spastic paraplegia 23
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 5
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with ocular anomalies and distinctive facial features
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Iris Dysplasia Hypertelorism Deafness
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
Karandikar Maria Kamble Syndrome
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Lethal Faciocardiomelic Dysplasia
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
macrocephaly-autism syndrome
Malocclusion and Short Stature
MARBACH-RUSTAD PROGEROID SYNDROME
Marfanoid Mental Retardation Syndrome, Autosomal
Marinesco-Sjogren syndrome
McPherson Clemens Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Deafness Syndrome
Microcephaly with Cervical Spine Fusion Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
Microphthalmia, Cataracts, and Iris Abnormalities
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
Multiple Pterygium Syndrome, X-Linked
Myoectodermal Gonadal Dysgenesis Syndrome
Myopathy, Cataract, Hypogonadism Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Neurodevelopmental disorder with ataxia and brain abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
oculodentodigital dysplasia +
Oculoskeletodental Syndrome
Odontomicronychial Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Ohdo syndrome, SBBYS variant
Oroacral Syndrome, Verloes-Koulischer Type
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteolysis Syndrome, Recessive
Otoonychoperoneal Syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
palmoplantar keratoderma and congenital alopecia 2
Partington Anderson Syndrome
Pavone Fiumara Rizzo Syndrome
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Peters Anomaly with Cataract
Pfeiffer Palm Teller Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
Polycystic Kidney, Cataract, and Congenital Blindness
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Premature Aging, Okamoto Type
Progeroid Facial Appearance with Hand Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Remitting Chorea with Nystagmus and Cataracts
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Say-Barber-Miller Syndrome
Schaap-Taylor-Baraitser Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Shprintzen Omphalocele Syndrome
Silver-Russell Syndrome 3
Singh-Chhaparwal-Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
Snijders Blok-Campeau Syndrome
Spinocerebellar Ataxia with Dysmorphism
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
spondyloepiphyseal dysplasia tarda with characteristic facies
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondyloocular Syndrome, Autosomal Recessive
Stoelinga-de Koomen-Davis Syndrome
Stolerman neurodevelopmental syndrome
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic microphthalmia 2
syndromic X-linked intellectual disability Turner type
Taurodontism, Microdontia, and Dens Invaginatus
temtamy preaxial brachydactyly syndrome
Thomas Jewett Raines Syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type III
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Uruguay faciocardiomusculoskeletal syndrome
Wellesley Carmen French Syndrome
Weyers acrofacial dysostosis
White Forelock with Malformations
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Zazam Sheriff Phillips Syndrome
Zonular Cataract and Nystagmus
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