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 |
|
Failure to thrive, Small for gestational age, Slender build, Generalized lipodystrophy |
ORPHA:50811 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... |
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, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of th... |
ORPHA:1818 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy |
ORPHA:154 |
Stiff Skin Syndrome |
|
Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Lipoatrophy |
ORPHA:2301 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy |
OMIM:613877 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy |
OMIM:612526 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Small for gestational age, Sparse axillary hair, Congenital generalized lipod... |
OMIM:608154 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... |
ORPHA:90156 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Reduced subcutaneous adipose tissue, L... |
ORPHA:280356 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Analbuminemia |
|
Lipodystrophy |
OMIM:616000 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Generalized hirsutism |
ORPHA:79087 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Lipodystrophy |
OMIM:619858 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy |
ORPHA:141184 |
Ddost-Cdg |
|
Failure to thrive, Lipodystrophy |
ORPHA:300536 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lipodystrophy |
OMIM:615980 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy |
ORPHA:79084 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of facial adipose tissue, Loss ... |
ORPHA:435651 |
Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Lipodystrophy |
ORPHA:79085 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Long ey... |
ORPHA:2963 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy |
OMIM:615238 |
Acrogeria |
|
Lipoatrophy, Fine hair |
ORPHA:2500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Progressive p... |
ORPHA:363400 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Lipoatrophy, Low posterior hairline, Premature graying of hair, Alopecia ... |
ORPHA:2617 |
Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Decreased body weight, Spars... |
OMIM:616200 |
C3 Glomerulopathy |
|
Lipodystrophy |
ORPHA:329918 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Atypical... |
ORPHA:75496 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Lipodystrophy |
OMIM:618048 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Finger joint contracture |
OMIM:212112 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Generalized... |
ORPHA:2348 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy |
OMIM:615381 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Lipodystrophy, Failure to thrive in infancy |
OMIM:617099 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Adipose tissue loss, Low anterior hairline, Low posterior hairline, Failure to thr... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity |
ORPHA:86816 |
Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:1133 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Panniculitis, Flexion contracture, Generalized lipodystrophy |
OMIM:619183 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Lipodystrophy, Highly arched eyebrow, Syn... |
OMIM:270450 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Failure t... |
OMIM:219200 |
Short Syndrome |
|
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ... |
ORPHA:3163 |
Alg3-Cdg |
|
Arthrogryposis multiplex congenita, Lipodystrophy |
ORPHA:79321 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:98855 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cimdag Syndrome |
|
Chorea, Polymicrogyria, Lipodystrophy, Ataxia |
OMIM:619273 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple |
ORPHA:64755 |
Stiff Skin Syndrome |
|
Lipoatrophy |
ORPHA:2833 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Inguinal hernia, Failure to thrive, Lipodystrophy, Thick hair, Abnorma... |
ORPHA:357074 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Panniculitis, Failure to thrive, Flexion contracture, Lipodystrophy |
OMIM:617591 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:98853 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Absence of subcutaneous fat |
OMIM:269880 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Lipodystrophy |
OMIM:618922 |
Werner Syndrome |
|
Sparse scalp hair, Lipoatrophy, Lipodystrophy, Abnormal hair whorl, Premature graying of hair, Wh... |
ORPHA:902 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Lipodystrophy |
ORPHA:300751 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Motor neuron atrophy, Motor deterioration |
ORPHA:157954 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Fucosidosis |
|
Failure to thrive, Lipoatrophy |
ORPHA:349 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... |
OMIM:248370 |
Graft Versus Host Disease |
|
Failure to thrive, Fasciitis, Lipodystrophy, Dupuytren contracture |
ORPHA:39812 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Flexion contracture, Lipodystrophy, Hirsutism |
OMIM:613327 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Hyperactivity |
OMIM:274270 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Loss of facial adipose tissue, General... |
ORPHA:79083 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Ataxia |
OMIM:278780 |
Poems Syndrome |
|
Weight loss, Lipodystrophy, Leukonychia, Hypertrichosis |
ORPHA:2905 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Keppen-Lubinsky Syndrome |
|
Lipodystrophy, Congenital generalized lipodystrophy, Flexion contracture, Failure to thrive, Loss... |
ORPHA:435628 |
De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Athetosis, Progressive cerebellar ataxia, Sparse hair, Umbilical ... |
ORPHA:2962 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Lipodystrophy, Hernia, Camptodactyly, Hypertrichosis |
ORPHA:168569 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Ataxia, Dysmetria, Hypoglycemia |
ORPHA:48431 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy, Generalized lipodystrophy |
ORPHA:90154 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody... |
OMIM:616914 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Ataxia |
OMIM:615771 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... |
OMIM:606721 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:608594 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Acquired Generalized Lipodystrophy |
|
Panniculitis, Generalized hirsutism, Generalized lipodystrophy |
ORPHA:79086 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Dpagt1-Cdg |
|
Lipodystrophy, Ataxia, Akinesia, Inability to walk, Flexion contracture, Camptodactyly, Emotional... |
ORPHA:86309 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... |
OMIM:614098 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, ... |
OMIM:614008 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:269700 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Lipoatrophy |
ORPHA:276280 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Barber-Say Syndrome |
|
Absent nipple, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Low anterior hairline, Hypoplasti... |
OMIM:209885 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy |
ORPHA:2396 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Sparse hair, Keloids, Joint contracture, Flexion contracture of f... |
OMIM:601812 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia u... |
ORPHA:363618 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Lipodystrophy, Camptodactyly of finger, Sparse axillary hair, Adipose tissue l... |
OMIM:256040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Alg9-Cdg |
|
Omphalocele, Lipodystrophy, Low posterior hairline, Irritability, Hypoplastic nipples, Hypertrich... |
ORPHA:79328 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Neonatal Marfan Syndrome |
|
Small for gestational age, Flexion contracture, Lipoatrophy |
ORPHA:284979 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Microphthalmia |
OMIM:613155 |
Developmental And Epileptic Encephalopathy 1 |
|
Choreoathetosis, Microphthalmia, Dysphagia |
OMIM:308350 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:1942 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Lipodystrophy, Progressive cerebellar ataxia, Sparse hair, Umbilical hernia, Fai... |
ORPHA:2834 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Microphthalmia, Abnorma... |
OMIM:618914 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Self-injurious behavior |
ORPHA:261272 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Broad-based gait |
OMIM:618805 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Microphthalmia, Waddling gait |
ORPHA:2788 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Tongue thrusting |
ORPHA:77299 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:152950 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus |
ORPHA:290 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Failure to thrive, Lipoatrophy, Abnormal hair morphology, Abnor... |
ORPHA:79474 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Irritability, Panniculitis, Difficulty walking |
ORPHA:51 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, Nail dystrophy, Sparse hair |
OMIM:619127 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Ataxia, Aggressive behavior, Bilateral microphthalmos, Agitation, Ov... |
ORPHA:369891 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Type II diabetes mellitus |
ORPHA:3191 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Lipoatrophy, Confusion... |
ORPHA:3455 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Insulin resistance |
OMIM:214150 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Lipoatrophy, Sp... |
OMIM:264090 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:494344 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Moebius Syndrome |
|
Microphthalmia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
OMIM:157900 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Dysphagia |
OMIM:612379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder, Compulsive behav... |
OMIM:620098 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Temtamy Syndrome |
|
Microphthalmia, Self-mutilation |
OMIM:218340 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Inability to walk, Microphthalmia, Dysphagia |
OMIM:618494 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ataxia |
OMIM:617883 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors |
ORPHA:404440 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia |
ORPHA:435638 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inability to walk, Microphthalmia, Gait disturbance, Difficulty walking |
OMIM:618571 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos, Aggressive behavior |
OMIM:310600 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Warburg Micro Syndrome 4 |
|
Inability to walk, Microphthalmia |
OMIM:615663 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Refsum Disease |
|
Microphthalmia, Ataxia |
ORPHA:773 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Gait disturbance, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:65286 |
Warburg Micro Syndrome 3 |
|
Inability to walk, Microphthalmia |
OMIM:614222 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Neonatal hypoglycemia |
ORPHA:35173 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Joubert Syndrome 14 |
|
Microphthalmia, Ataxia |
OMIM:614424 |
Atelis Syndrome 2 |
|
Microphthalmia, Attention deficit hyperactivity disorder, Hyperinsulinemia, Dysmetria |
OMIM:620185 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Microphthalmia, Ataxia |
OMIM:278730 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Hyperactivity, Aggressive behavior |
OMIM:619148 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Pmm2-Cdg |
|
Multiple joint contractures, Lipodystrophy, Ataxia, Abnormal subcutaneous fat tissue distribution... |
ORPHA:79318 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Ataxia |
OMIM:610651 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Microphthalmia, Difficulty walking, Aggressive behavior |
ORPHA:464738 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Self-injurious behavior |
ORPHA:568 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Joubert Syndrome 2 |
|
Microphthalmia, Ataxia |
OMIM:608091 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Attention deficit hyperactivity disorder |
ORPHA:250989 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Ataxia |
OMIM:251300 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Microphthalmia, Hyperactivity |
OMIM:234100 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Incontinentia Pigmenti |
|
Microphthalmia, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:464 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Monosomy 9Q22.3 |
|
Microphthalmia, Hyperactivity |
ORPHA:77301 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Bilateral microphthalmos |
ORPHA:2839 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Hyperactivity |
OMIM:223370 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Holoprosencephaly |
|
Microphthalmia, Diabetes mellitus, Anophthalmia, Hypoglycemia |
ORPHA:2162 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Hypoglycemia, Congenital aphakia |
ORPHA:137675 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Mend Syndrome |
|
Microphthalmia, Hyperactivity, Aggressive behavior |
ORPHA:401973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Attention deficit hyperactivity disorder |
OMIM:614083 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia |
OMIM:236670 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Attention deficit hyperactivity disorder |
OMIM:227646 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Cockayne Syndrome |
|
Diabetes mellitus, Ataxia, Inability to walk, Progressive gait ataxia, Gait disturbance, Difficul... |
ORPHA:191 |
Oculodentodigital Dysplasia |
|
Microphthalmia, Ataxia |
OMIM:164200 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disor... |
ORPHA:534 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:508498 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Attention deficit hyperactivity disorder |
OMIM:616975 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
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 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia |
OMIM:147791 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Unsteady gait, Difficulty walking |
ORPHA:90324 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Ataxia |
OMIM:133540 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Hypoplasia of the iris, Self-injurious behavio... |
ORPHA:649 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Gait ataxia |
ORPHA:33364 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Bilateral microphthalmos, Abnormal repetitive mannerisms, Optic nerve hy... |
ORPHA:468631 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
22Q11.2 Deletion Syndrome |
|
Microphthalmia, Attention deficit hyperactivity disorder |
ORPHA:567 |
Charge Syndrome |
|
Compulsive behaviors, Microphthalmia, Anophthalmia, Attention deficit hyperactivity disorder |
ORPHA:138 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Myhre Syndrome |
|
Microphthalmia, Ataxia |
OMIM:139210 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:564 |
Holoprosencephaly 1 |
|
Microphthalmia, Hypoglycemia |
OMIM:236100 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Treacher-Collins Syndrome |
|
Microphthalmia |
ORPHA:861 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Degcags Syndrome |
|
Microphthalmia, Oral-pharyngeal dysphagia, Choking episodes |
OMIM:619488 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:84 |
Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Aggressive behavior, Type II diabetes mellitus, Attention deficit hyperactivity di... |
OMIM:613406 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder |
OMIM:619539 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia |
OMIM:620186 |
Meckel Syndrome, Type 1 |
|
Microphthalmia |
OMIM:249000 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia |
OMIM:300166 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:3472 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
8Q24.3 Microdeletion Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Bilateral microphthalmos, Tics, Dysphagia |
ORPHA:508488 |
Charge Syndrome |
|
Anophthalmia, Unilateral microphthalmos, Dysphagia, Microphthalmia, Self-mutilation |
OMIM:214800 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia |
OMIM:613884 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Pallister-Hall Syndrome |
|
Microphthalmia, Paroxysmal bursts of laughter |
ORPHA:672 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Dysphagia, Bruxism, Microphthalmia, Abnormal repetit... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Microphthalmia, Abnormal repetitive mann... |
ORPHA:261537 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Microphthalmia, Abnormal repetitive mann... |
ORPHA:261552 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
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 |
|
Microphthalmia |
OMIM:235730 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Self-mutilation, Aggressive behavior |
OMIM:309800 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia |
OMIM:268300 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |