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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
agnathia-otocephaly complex
Alopecia Congenita Keratosis Palmoplantaris +
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia, Hypogonadism, Extrapyramidal Disorder
alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alopecia-mental retardation syndrome +
Alpha-B Crystallinopathy with Cataract
Alves Castelo dos Santos Syndrome
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Arthrogryposis and Ectodermal Dysplasia
arthrogryposis multiplex congenita +
Ataxia-Microcephaly-Cataract Syndrome
atrichia with papular lesions
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant keratosis follicularis spinulosa decalvans
autosomal recessive congenital ichthyosis +
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bhaskar Jagannathan Syndrome
bladder exstrophy-epispadias-cloacal exstrophy complex +
Bullous Dystrophy, Hereditary Macular Type
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
cardiofaciocutaneous 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
caudal regression syndrome
Central Centrifugal Cicatricial Alopecia
Cerebellar Ataxia and Ectodermal Dysplasia
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
chemotherapy-induced alopecia
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate-lateral synechia syndrome
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Compton-North congenital myopathy
congenital adrenal hyperplasia +
congenital adrenal insufficiency
congenital afibrinogenemia +
Congenital Alopecia X-Linked
congenital amegakaryocytic thrombocytopenia +
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital diaphragmatic hernia +
congenital disorder of glycosylation +
Congenital Ectodermal Dysplasia with Hearing Loss
congenital fibrosis of the extraocular muscles +
Congenital Foot Deformities +
congenital generalized lipodystrophy +
congenital granular cell tumor
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital mesoblastic nephroma +
congenital mirror movement disorder +
congenital muscular dystrophy +
congenital muscular dystrophy with cataracts and intellectual disability
congenital myasthenic syndrome +
congenital nervous system abnormality +
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
Cornea Guttata with Anterior Polar Cataract
cranioectodermal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Cutaneous Telangiectasia and Cancer Syndrome, Familial
Deafness with Anhidrotic Ectodermal Dysplasia
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
disabling pansclerotic morphea
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ellis-Van Creveld syndrome +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Euhidrotic Ectodermal Dysplasia
Familial Partial Lipodystrophy Type 7
Focal Facial Dermal Dysplasia +
Follicular Hamartoma, Alopecia, Cystic Fibrosis
Freire-Maia Odontotrichomelic Syndrome
frontal fibrosing alopecia
Gomez Lopez Hernandez Syndrome
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Halal Setton Wang Syndrome
Hay Wells Syndrome Recessive Type
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary spastic paraplegia 9A
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
High Myopia with Cataract and Vitreoretinal Degeneration
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hypergonadotropic Hypogonadism and Partial Alopecia
Hypertrophic Neuropathy and Cataract
hypohidrotic ectodermal dysplasia +
hypomyelinating leukodystrophy 5
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
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
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Johnson Neuroectodermal Syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Juvenile Linear Scleroderma
Juvenile-Onset Scleroderma
Karandikar Maria Kamble Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
large congenital melanocytic nevus
Leber congenital amaurosis +
Leg, Absence Deformity of, with Congenital Cataract
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
linear skin defects with multiple congenital anomalies 2
loose anagen hair syndrome +
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
mandibulofacial dysostosis with alopecia
Marinesco-Sjogren syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Sparse Hair Mental Retardation Seizures
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 congenital anomalies-hypotonia-seizures syndrome +
Myopathy, Cataract, Hypogonadism Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
non-congenital cyst of kidney
nonsyndromic aplasia cutis congenita
nonsyndromic congenital nail disorder +
Oculoskeletodental Syndrome
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2 An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)
Papillon-Lefevre disease +
Pavone Fiumara Rizzo Syndrome
Perniola Krajewska Carnevale Syndrome
Peters Anomaly with Cataract
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
primary congenital glaucoma +
pure hair and nail ectodermal dysplasia +
rapidly involuting congenital hemangioma
Remitting Chorea with Nystagmus and Cataracts
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Robinson Miller Bensimon Syndrome
Rosselli-Gulienetti Syndrome
scalp-ear-nipple syndrome
Schaap Taylor Baraitser Syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Seres-Santamaria Arimany Muniz Syndrome
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
Silver-Russell syndrome +
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
spondyloepiphyseal dysplasia with congenital joint dislocations
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondyloocular Syndrome, Autosomal Recessive
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic microphthalmia 2
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Taurodontia, Absent Teeth, Sparse Hair
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Thumb Deformity and Alopecia
Thumb Deformity, Alopecia, Pigmentation Anomaly
Trichoodontoonychial Dysplasia
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Trueb Burg Bottani Syndrome
Urban Schosser Spohn Syndrome
Wellesley Carmen French Syndrome
Woodhouse-Sakati syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Zika virus congenital syndrome
Zonular Cataract and Nystagmus
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