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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alpha-B Crystallinopathy with Cataract
Amish Lethal Microcephaly
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Aphalangia Syndactyly Microcephaly
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant microcephaly +
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
autosomal recessive pericentral pigmentary retinopathy
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Bhaskar Jagannathan Syndrome
Bork Stender Schmidt Syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
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
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Chang Davidson Carlson Syndrome
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
Chromosome Xp11.3 Deletion Syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Concentric Annular Macular Dystrophy
Cone Rod Dystrophy Amelogenesis Imperfecta
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
congenital muscular dystrophy with cataracts and intellectual disability
Cornea Guttata with Anterior Polar Cataract
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
dominant pericentral pigmentary retinopathy
Ellis Yale Winter Syndrome
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Familial Partial Lipodystrophy Type 7
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Forsythe-Wakeling Syndrome
Furukawa Takagi Nakao Syndrome
Galloway-Mowat syndrome +
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
High Myopia with Cataract and Vitreoretinal Degeneration
Hoyeraal Hreidarsson Syndrome
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
hypertelorism, microtia, facial clefting syndrome
Hypertrophic Neuropathy and Cataract
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypomyelinating leukodystrophy 5
Hypospadias-Mental Retardation Syndrome
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
isolated microphthalmia 5
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
late-adult onset retinitis pigmentosa
Leber congenital amaurosis 14
Leber congenital amaurosis 3
Leg, Absence Deformity of, with Congenital Cataract
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 2
MacDermot Winter Syndrome
Macular Dystrophy with Central Cone Involvement
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Marinesco-Sjogren syndrome
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Nonsyndromal
Microcephaly Pontocerebellar Hypoplasia Dyskinesia
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Chorioretinopathy, Autosomal Dominant
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly with Simplified Gyral Pattern
Microcephaly with Spastic Quadriplegia
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
Microphthalmia and Mental Deficiency
Microphthalmia, Cataracts, and Iris Abnormalities
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Mousa Al din Al Nassar Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multiple congenital anomalies-hypotonia-seizures syndrome 3
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Myopathy, Cataract, Hypogonadism Syndrome
Nabais Sa-de Vries Syndrome, Type 1
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
Newfoundland cone-rod dystrophy
Nijmegen Breakage Syndrome-Like Disorder
Oculopalatocerebral Syndrome
Oculoskeletodental Syndrome
Oliver-McFarlane syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
palmoplantar keratoderma and congenital alopecia 2
Partington Anderson Syndrome
Pavone Fiumara Rizzo Syndrome
Peripheral Cone Dystrophy
Peters Anomaly with Cataract
Pigmentary Retinopathy and Sensorineural Deafness
Polycystic Kidney, Cataract, and Congenital Blindness
Posterior Column Ataxia with Retinitis Pigmentosa
Premature Aging, Okamoto Type
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Progressive Pallidal Degeneration with Retinitis Pigmentosa
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Remitting Chorea with Nystagmus and Cataracts
retinal cone dystrophy 3A
retinal cone dystrophy 3B
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
retinitis pigmentosa Y-linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinitis Pigmentosa, Late-Onset Dominant
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Sammartino De Crecchio Syndrome
Say Barber Miller Syndrome
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
short-rib thoracic dysplasia 9 with or without polydactyly
Silengo Lerone Pelizza Syndrome
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondylometaphyseal dysplasia with cone-rod dystrophy
Spondyloocular Syndrome, Autosomal Recessive
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic microphthalmia 13
syndromic microphthalmia 2
syndromic microphthalmia 8
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Tapetoretinal Degeneration with Ataxia
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Total Anonychia with Microcephaly
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Warburton Anyane Yeboa Syndrome
Wellesley Carmen French Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
X-Linked Cone Dystrophy with Tapetal-like Sheen
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-linked retinitis pigmentosa and sinorespiratory infections
Zerres Rietschel Majewski Syndrome
Zonular Cataract and Nystagmus
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