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Absent Eyebrows and Eyelashes with Mental Retardation
agnathia-otocephaly complex
anterior segment dysgenesis +
anterior segment dysgenesis 3
anterior segment dysgenesis 4
arthrogryposis multiplex congenita +
ataxia with oculomotor apraxia type 3
Ataxia-Microcephaly-Cataract Syndrome
ataxia-oculomotor apraxia type 4
autosomal dominant congenital deafness with onychodystrophy
autosomal genetic disease +
autosomal recessive congenital ichthyosis +
bladder exstrophy-epispadias-cloacal exstrophy complex +
Bothnia retinal dystrophy
Camurati-Engelmann disease +
cardiofaciocutaneous syndrome +
cataract 17 multiple types
cataract 22 multiple types
Cataract 50 with or without Glaucoma
catecholaminergic polymorphic ventricular tachycardia +
caudal regression syndrome
Cavitary Optic Disc Anomalies
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
chondrodysplasia punctata +
cleft palate-lateral synechia syndrome
Compton-North congenital myopathy
congenital adrenal hyperplasia +
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital diaphragmatic hernia +
congenital disorder of glycosylation +
congenital fibrosis of the extraocular muscles +
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 Foot Deformities +
congenital generalized lipodystrophy +
congenital granular cell tumor
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 intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital mesoblastic nephroma +
congenital mirror movement disorder +
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital nervous system abnormality +
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
Cornelia de Lange syndrome +
corticosteroid-binding globulin deficiency
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1H
dilated cardiomyopathy 1I
dilated cardiomyopathy 1J
dilated cardiomyopathy 1K
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1O
dilated cardiomyopathy 1P
dilated cardiomyopathy 1Q
dilated cardiomyopathy 1T
dilated cardiomyopathy 1W
dilated cardiomyopathy 1Z
Duane retraction syndrome +
Dyssegmental Dysplasia with Glaucoma
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
erythrokeratodermia variabilis +
exudative vitreoretinopathy +
familial benign fleck retina
familial hemophagocytic lymphohistiocytosis 5
familial nephrotic syndrome +
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group J
Fanconi anemia complementation group N
fetal akinesia deformation sequence syndrome +
Foveal Hypoplasia with Anterior Segment Anomalies
Friedreich Ataxia Congenital Glaucoma
gene duplication disease +
Ghose Sachdev Kumar Syndrome
Glaucoma 1, Open Angle, P
Glaucoma 3, Primary Infantile, B
glaucomatous atrophy of optic disc
Grouped Pigmentation of the Macula
hereditary combined deficiency of vitamin K-dependent clotting factors +
hereditary night blindness +
Hereditary Optic Atrophies +
hereditary retinal dystrophy +
Histiocytic Dermatoarthritis
infantile histiocytoid cardiomyopathy
inflammatory bowel disease 1
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
Iris Hypoplasia and Glaucoma
Iris Pigment Epithelium Anomalies
isolated microphthalmia 4
large congenital melanocytic nevus
Leber congenital amaurosis +
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
MacKay Shek Carr Syndrome
Microcephaly and Chorioretinopathy +
Microcornea, Glaucoma, and Absent Frontal Sinuses
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple epiphyseal dysplasia due to collagen 9 anomaly +
non-congenital cyst of kidney
nonsyndromic congenital nail disorder +
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Peripapillary Atrophy, Beta Type
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Peters Anomaly with Cataract
pigmented paravenous chorioretinal atrophy
PORETTI-BOLTSHAUSER SYNDROME
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
primary congenital glaucoma + A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Radial Drusen, Autosomal Dominant
rapidly involuting congenital hemangioma
renal hypomagnesemia 5 with ocular involvement
Retinal Dystrophy, Early Onset Severe +
Retinohepatoendocrinologic Syndrome
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Ritscher-Schinzel syndrome +
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
SHOX-related short stature
Silver-Russell syndrome +
Spastic Paresis, Glaucoma, and Mental Retardation
spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloocular Syndrome, Autosomal Recessive
steroid-induced glaucoma +
Stickler Syndrome, Type I, Nonsyndromic Ocular
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Tetralogy of Fallot and Glaucoma
vitelliform macular dystrophy +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 2
X-Linked Macular Dystrophy +
X-linked monogenic disease +
Y-linked monogenic disease +
Zika virus congenital syndrome
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