Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Generalized lipodystrophy, Small for gestational age |
ORPHA:50811 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of facial adipose tissue, Lipodystrophy, Progressive loss of facial adipose tissue, Loss of ... |
OMIM:613913 |
Lipase Deficiency, Combined |
|
Lipodystrophy |
OMIM:246650 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90159 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... |
ORPHA:1818 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy |
ORPHA:154 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Flexion contracture |
OMIM:233805 |
Congenital Short Bowel Syndrome |
|
Lipoatrophy, Sparse hair |
ORPHA:2301 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy |
OMIM:613877 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy |
OMIM:612526 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Sparse axillary hair, Small for gestational age, Sparse facial ... |
OMIM:608154 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Alopecia, Absence of subcutaneous fat, Lack of ... |
ORPHA:90156 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Lo... |
ORPHA:280356 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Flexion contracture, Cachexia, Lipodystrophy, W... |
ORPHA:1979 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Analbuminemia |
|
Lipodystrophy |
OMIM:616000 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy |
ORPHA:79087 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy |
ORPHA:141184 |
Autoinflammatory-Pancytopenia Syndrome |
|
Lipodystrophy, Failure to thrive |
OMIM:619858 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy |
OMIM:212112 |
Ddost-Cdg |
|
Lipodystrophy, Failure to thrive |
ORPHA:300536 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lipodystrophy |
OMIM:615980 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy |
ORPHA:79084 |
Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Decreased body weight, Elbow flexion contracture |
OMIM:616200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Microphthalmia |
OMIM:615771 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Lipoatrophy, Sparse hair |
ORPHA:261304 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Generalized hirsutism, Lipoatrophy, Spars... |
ORPHA:2963 |
Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy |
OMIM:615238 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Loss of gluteal subcutaneous adipose tissue, Lipo... |
OMIM:604367 |
Acrogeria |
|
Lipoatrophy, Fine hair |
ORPHA:2500 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Increased intraabdominal fat |
ORPHA:79085 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Generalized h... |
ORPHA:363400 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Abnormal hair quantity, Shagreen patch, Premature graying of hair, Low posterior hai... |
ORPHA:2617 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Lipodystro... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue i... |
ORPHA:435651 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Keppen-Lubinsky Syndrome |
|
Absence of subcutaneous fat, Failure to thrive, Generalized lipodystrophy, Flexion contracture |
OMIM:614098 |
C3 Glomerulopathy |
|
Lipodystrophy |
ORPHA:329918 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Flexion contracture, Sparse eyelashes, Lipodystrophy, Atrophic... |
ORPHA:75496 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Failure to thrive |
OMIM:618048 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Cherubism |
|
Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Failure to thrive in infancy, Panniculitis |
OMIM:617099 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Cellulitis, Lipodystrophy, Loss of subcutaneous adipose tissu... |
ORPHA:2348 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hypertrichosis, Low anterior hairline, Lipodystrophy, Adipose tissue loss, Low... |
ORPHA:528 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased body weight, Truncal obesity, L... |
OMIM:270450 |
Short Syndrome |
|
Lipodystrophy, Lipoatrophy, Inguinal hernia, Small for gestational age |
OMIM:269880 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lipodystrophy, Flexion contracture |
OMIM:615381 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Abnormality of hair texture, Inguinal hernia, Brittle hair, Coarse hair, Lipod... |
OMIM:219200 |
Congenital Analbuminemia |
|
Lipodystrophy, Obesity, Small for gestational age |
ORPHA:86816 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Loss of... |
OMIM:151660 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Generalized lipodystrophy, Flexion contracture, Panniculitis |
OMIM:619183 |
Aredyld Syndrome |
|
Lipoatrophy, Sparse body hair, Cachexia, Aplasia/Hypoplasia of the eyebrow, Abnormal dental ename... |
ORPHA:1133 |
Short Syndrome |
|
Sparse hair, Inguinal hernia, Alopecia, Lipodystrophy, Weight loss, Abnormal dental enamel morpho... |
ORPHA:3163 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Alg3-Cdg |
|
Lipodystrophy, Arthrogryposis multiplex congenita |
ORPHA:79321 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple |
ORPHA:64755 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Failure to thrive, Sparse hair, Inguinal hernia, Coarse hair, Polymicrogyria, Lipodys... |
ORPHA:357074 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... |
ORPHA:98855 |
Stiff Skin Syndrome |
|
Lipoatrophy |
ORPHA:2833 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Primary Lipodystrophy |
|
Lipodystrophy, Lipoatrophy |
ORPHA:90970 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Failure to thrive, Flexion contracture, Panniculitis |
OMIM:617591 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Lipoatrophy, Sparse hair, Alopecia, Increased subcutane... |
ORPHA:2457 |
Cimdag Syndrome |
|
Lipodystrophy, Ataxia, Polymicrogyria, Chorea |
OMIM:619273 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Tip-toe gait,... |
ORPHA:98853 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Sparse hair |
OMIM:601812 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... |
ORPHA:280365 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Failure to thrive |
OMIM:618922 |
Werner Syndrome |
|
Pili torti, Sparse scalp hair, Slender build, Lipoatrophy, Abnormal hair whorl, Chondrocalcinosis... |
ORPHA:902 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Flexion contracture, Alopecia, Brittle hair, Loss of truncal subcutaneous adipose ti... |
OMIM:608612 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Lipodystrophy |
ORPHA:300751 |
Fucosidosis |
|
Failure to thrive, Lipoatrophy |
ORPHA:349 |
Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy, Alopecia, Motor deterioration, Motor neuron atrophy |
ORPHA:157954 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... |
OMIM:248370 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Microphthalmia |
OMIM:278780 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Microphthalmia |
OMIM:274270 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Poems Syndrome |
|
Lipodystrophy, Hypertrichosis, Leukonychia, Weight loss |
ORPHA:2905 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Hirsutism, Failure to thrive, Flexion contracture |
OMIM:613327 |
Graft Versus Host Disease |
|
Lipodystrophy, Failure to thrive, Fasciitis, Dupuytren contracture |
ORPHA:39812 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of facial adipose tissue, Generalized hirsutism, Lipoatrophy, Loss of subcutaneous adipose t... |
ORPHA:79083 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Choreoathetosis, Anophthalmia, Microphthalmia |
OMIM:221950 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:617914 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
H Syndrome |
|
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Camptodactyly, Lipodystrophy, Hernia |
ORPHA:168569 |
De Barsy Syndrome |
|
Failure to thrive, Progressive cerebellar ataxia, Sparse hair, Inguinal hernia, Athetosis, Lipody... |
ORPHA:2962 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Ataxia, Dysmetria, Microphthalmia |
ORPHA:48431 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody... |
OMIM:616914 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Alopecia |
ORPHA:90154 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Sparse hair, Dysmetria... |
OMIM:606721 |
Dpagt1-Cdg |
|
Failure to thrive, Head-banging, Ataxia, Hypertrichosis, Inability to walk, Flexion contracture, ... |
ORPHA:86309 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Keppen-Lubinsky Syndrome |
|
Failure to thrive, Flexion contracture, Lipodystrophy, Congenital generalized lipodystrophy, Loss... |
ORPHA:435628 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hirsutism, Reduced in... |
OMIM:608594 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Generalized lipodystrophy, Panniculitis |
ORPHA:79086 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Lipoatrophy |
ORPHA:276280 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hirsutism, Reduced in... |
OMIM:269700 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Abnormal eyelash morphology, Multiple lipomas, Alopecia |
ORPHA:2396 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Failure to thrive, Lipoatrophy, Flexion contracture, Alopecia, Sparse eyelashe... |
OMIM:614008 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Barber-Say Syndrome |
|
Absent nipple, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse eyelashes, Hypoplast... |
OMIM:209885 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos |
OMIM:608763 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Absent eyelashes, Premature grayi... |
ORPHA:363618 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Hypertrichosis, Flexion contracture of finger, Flexion contracture, Sparse axi... |
OMIM:256040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Alg9-Cdg |
|
Hypertrichosis, Irritability, Hypoplastic nipples, Lipodystrophy, Omphalocele, Low posterior hair... |
ORPHA:79328 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Neonatal Marfan Syndrome |
|
Lipoatrophy, Flexion contracture, Small for gestational age |
ORPHA:284979 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Unsteady gait, Microphthalmia |
ORPHA:1942 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... |
ORPHA:137902 |
Wrinkly Skin Syndrome |
|
Failure to thrive, Progressive cerebellar ataxia, Sparse hair, Inguinal hernia, Lipodystrophy, Um... |
ORPHA:2834 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Microphthalmia |
OMIM:618805 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Waddling gait, Microphthalmia |
ORPHA:2788 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Developmental And Epileptic Encephalopathy 1 |
|
Choreoathetosis, Microphthalmia |
OMIM:308350 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia |
ORPHA:290 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Atypical Werner Syndrome |
|
Pili torti, Failure to thrive, Decreased body weight, Lipoatrophy, Abnormal hair quantity, Abnorm... |
ORPHA:79474 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Difficulty walking, Irritability, Panniculitis |
ORPHA:51 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Flexion contracture, Sparse eyebrow, Generalized lipodystrophy, Nail dystrophy |
OMIM:619127 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Microphthalmia |
ORPHA:3191 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Microphthalmia |
OMIM:214150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Lipoatrophy, Absent ey... |
OMIM:264090 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:152950 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Joubert Syndrome 14 |
|
Ataxia, Microphthalmia |
OMIM:614424 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Ataxia, Hirsutism, Lipoatrophy, Sparse ha... |
ORPHA:3455 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Moebius Syndrome |
|
Gait disturbance, Dysdiadochokinesis, Microphthalmia |
OMIM:157900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Autosomal Dominant Keratitis |
|
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... |
ORPHA:2334 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Rere-Related Neurodevelopmental Syndrome |
|
Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:494344 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:3378 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:435638 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia |
OMIM:610256 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Gait disturbance, Difficulty walking, Inability to walk, Microphthalmia |
OMIM:618571 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:404440 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Warburg Micro Syndrome 4 |
|
Inability to walk, Microphthalmia |
OMIM:615663 |
Refsum Disease |
|
Ataxia, Microphthalmia |
ORPHA:773 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ataxia, Hyperactivity, Bilateral microphthalmos |
ORPHA:369891 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
Pettigrew Syndrome |
|
Choreoathetosis, Self-injurious behavior, Flexion contracture, Gait ataxia |
OMIM:304340 |
Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:370959 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia, Microphthalmia |
ORPHA:35173 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Xeroderma Pigmentosum, Complementation Group D |
|
Ataxia, Choreoathetosis, Microphthalmia |
OMIM:278730 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:609053 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
3Q29 Microdeletion Syndrome |
|
Gait disturbance, Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:65286 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Microphthalmia |
OMIM:619148 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Microphthalmia |
OMIM:610651 |
Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:899 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Pmm2-Cdg |
|
Multiple joint contractures, Failure to thrive, Ataxia, Lipodystrophy, Abnormal subcutaneous fat ... |
ORPHA:79318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Bilateral microphthalmos |
OMIM:600122 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Microphthalmia |
OMIM:600123 |
Norrie Disease |
|
Buphthalmos, Hypoplasia of the iris, Microphthalmia |
OMIM:310600 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Difficulty walking, Inability to walk, Microphthalmia |
ORPHA:464738 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia |
ORPHA:91495 |
Joubert Syndrome 2 |
|
Ataxia, Microphthalmia |
OMIM:608091 |
1Q21.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:250989 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Phthisis bulbi, Microphthalmia |
OMIM:221900 |
Incontinentia Pigmenti |
|
Gait disturbance, Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:464 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Hyperactivity, Microphthalmia |
OMIM:234100 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Hyperactivity, Microphthalmia |
OMIM:223370 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Holoprosencephaly |
|
Hypoglycemia, Microphthalmia, Anophthalmia, Diabetes mellitus |
ORPHA:2162 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Waddling gait |
ORPHA:2839 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Monosomy 9Q22.3 |
|
Hyperactivity, Microphthalmia |
ORPHA:77301 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Subaortic Stenosis--Short Stature Syndrome |
|
Microphthalmia |
OMIM:271960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Histiocytoid Cardiomyopathy |
|
Hypoglycemia, Congenital aphakia, Microphthalmia |
ORPHA:137675 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Fanconi Anemia, Complementation Group L |
|
Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:614083 |
Fried Syndrome |
|
Gait disturbance, Aggressive behavior |
ORPHA:85335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614643 |
Oculoauricular Syndrome |
|
Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia |
OMIM:612109 |
Oculodentodigital Dysplasia |
|
Ataxia, Microphthalmia |
OMIM:164200 |
Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia |
OMIM:259770 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
Fanconi Anemia, Complementation Group D2 |
|
Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:227646 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:243605 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Phace Association |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:606519 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Optic nerve hypoplasia, Microphthalmia |
OMIM:236670 |
Pierson Syndrome |
|
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... |
OMIM:609049 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Cockayne Syndrome |
|
Ataxia, Inability to walk, Microphthalmia, Gait disturbance, Difficulty walking, Progressive gait... |
ORPHA:191 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Mend Syndrome |
|
Hyperactivity, Microphthalmia |
ORPHA:401973 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microphthalmia |
ORPHA:3412 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:616975 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Trisomy 18 |
|
Microphthalmia |
ORPHA:3380 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Jacobsen Syndrome |
|
Macular hypoplasia, Microphthalmia |
OMIM:147791 |
Cockayne Syndrome Type 3 |
|
Difficulty walking, Unsteady gait, Microphthalmia |
ORPHA:90324 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Cockayne Syndrome B |
|
Ataxia, Hypoplasia of the iris, Microphthalmia |
OMIM:133540 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:508498 |
Trichothiodystrophy |
|
Gait ataxia, Bilateral microphthalmos |
ORPHA:33364 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Basal Cell Nevus Syndrome |
|
Microphthalmia |
OMIM:109400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:534 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2538 |
22Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:567 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Myhre Syndrome |
|
Ataxia, Microphthalmia |
OMIM:139210 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:564 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Treacher-Collins Syndrome |
|
Microphthalmia |
ORPHA:861 |
Charge Syndrome |
|
Attention deficit hyperactivity disorder, Anophthalmia, Microphthalmia |
ORPHA:138 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2526 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Microphthalmia |
ORPHA:42775 |
Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:84 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Attention deficit hyperactivity disorder,... |
ORPHA:649 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Buphthalmos, Microphthalmia |
OMIM:253280 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2556 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Microphthalmia |
ORPHA:1106 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
ORPHA:468631 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:613406 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
Microphthalmia, Syndromic 2 |
|
Phthisis bulbi, Anophthalmia, Microphthalmia |
OMIM:300166 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
Meckel Syndrome, Type 1 |
|
Microphthalmia |
OMIM:249000 |
Neuroocular Syndrome |
|
Attention deficit hyperactivity disorder, Hypoplasia of the fovea, Lens coloboma, Microphthalmia |
OMIM:619539 |
Holoprosencephaly 1 |
|
Hypoglycemia, Microphthalmia |
OMIM:236100 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Focal Dermal Hypoplasia |
|
Aniridia, Anophthalmia, Microphthalmia |
OMIM:305600 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:3472 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia |
OMIM:613884 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Holoprosencephaly 7 |
|
Bilateral microphthalmos |
OMIM:610828 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Fraser Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2052 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Charge Syndrome |
|
Anophthalmia, Unilateral microphthalmos, Microphthalmia |
OMIM:214800 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:113620 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Microphthalmia |
ORPHA:2152 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Inability to walk, Microphthalmia |
ORPHA:261537 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Inability to walk, Microphthalmia |
ORPHA:261552 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Gait disturbance, Aggressive behavior |
ORPHA:85329 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia |
OMIM:268300 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Hyperactivity, Bilateral microphthalmos |
ORPHA:508488 |
Craniofacial Microsomia |
|
Anophthalmia, Microphthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microphthalmia |
OMIM:309800 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Inguinal hernia |
ORPHA:1568 |