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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
Al Gazali Sabrinathan Nair Syndrome
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
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Baraitser Brett Piesowicz Syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Bhaskar Jagannathan Syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
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 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Congenital Dominant Non Nuclear
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
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
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Cole-Carpenter syndrome +
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
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Ellis Yale Winter Syndrome
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Forsythe-Wakeling Syndrome
Galloway-Mowat syndrome +
gnathodiaphyseal dysplasia
Growth Deficiency and Mental Retardation with Facial Dysmorphism
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 Weisskopk Syndrome
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 with Abnormal Behavior, Microcephaly, and Short Stature
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
Juvenile Cataract, with Microcornea and Glucosuria
Karandikar Maria Kamble Syndrome
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Leg, Absence Deformity of, with Congenital Cataract
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
Linear Skin Defects with Multiple Congenital Anomalies 2
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Lissencephaly 6, with Microcephaly
MacDermot Winter Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Marinesco-Sjogren syndrome
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Cervical Spine Fusion Anomalies
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 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, 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 2
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
Microcephaly-Capillary Malformation Syndrome
Microcephaly-Micromelia Syndrome
Microphthalmia and Mental Deficiency
Microphthalmia, Cataracts, and Iris Abnormalities
Microphthalmia, Syndromic 13
Microphthalmia, Syndromic 2
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Myopathy, Cataract, Hypogonadism Syndrome
Myopia, High, with Cataract and Vitreoretinal Degeneration
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
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, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
Nijmegen Breakage Syndrome-Like Disorder
O'Donnell Pappas Syndrome
Oculopalatocerebral Syndrome
Oculoskeletodental Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
osteogenesis imperfecta type 1
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
osteogenesis imperfecta type 14
osteogenesis imperfecta type 15
osteogenesis imperfecta type 16
osteogenesis imperfecta type 17
Osteogenesis Imperfecta Type 18
Osteogenesis Imperfecta Type 19
osteogenesis imperfecta type 2 +
Osteogenesis Imperfecta Type 20
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
osteogenesis imperfecta type 6
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
palmoplantar keratoderma and congenital alopecia 2
Partington Anderson Syndrome
Pavone Fiumara Rizzo Syndrome
Peters Anomaly with Cataract
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
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
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Silengo Lerone Pelizza Syndrome
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
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 Mental Retardation
Spondyloocular Syndrome, Autosomal Recessive
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Total Anonychia with Microcephaly
Warburton Anyane Yeboa Syndrome
Wellesley Carmen French Syndrome
Winship Viljoen Leary Syndrome
Zerres Rietschel Majewski Syndrome
Zonular Cataract and Nystagmus
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