Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Optic Atrophy 2 |
|
Dysdiadochokinesis, Optic atrophy, Absent Achilles reflex |
OMIM:311050 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Ataxia, Optic atrophy, Increased level of ribose in CSF, Increased level of D-threitol in CSF, De... |
OMIM:608611 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance, Optic atrophy |
OMIM:311100 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy |
OMIM:609055 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Gait disturbance, Loss of amb... |
OMIM:615043 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Auditory Neuropathy And Optic Atrophy |
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Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Spastic Ataxia 7, Autosomal Dominant |
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Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Micrognathia |
ORPHA:1538 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Areflexia of lower limbs, Optic atrophy |
OMIM:165199 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
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Ataxia, Optic atrophy, Ventriculomegaly, Chorioretinal coloboma |
ORPHA:2732 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
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Overlapping toe, Inability to walk, Optic atrophy |
OMIM:618572 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Type II diabetes... |
OMIM:614296 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
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Pes cavus, Optic disc pallor, Hammertoe, Optic atrophy |
OMIM:618511 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Retinal dysplasia |
OMIM:615041 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Hydrocephalus, Retinopathy, Gait disturbance |
ORPHA:26 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy |
OMIM:615658 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance |
OMIM:616859 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S... |
ORPHA:320396 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Optic atrophy, Gait ataxia, Flexion contracture of toe, Ventriculomegaly |
OMIM:619323 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Difficulty walking, Leg muscle st... |
ORPHA:320360 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Opt... |
OMIM:602271 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... |
OMIM:619902 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
OMIM:614830 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia |
OMIM:618970 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:2572 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615938 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of peripheral n... |
ORPHA:431329 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Postaxial hand polydactyly... |
OMIM:615630 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:165300 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Peripheral axonal neuropathy, Optic atrophy, Decreased Achilles reflex, Difficulty walking, Dista... |
ORPHA:468661 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hepatomegaly, Hydrocephalus, Optic atrophy, Small hand |
OMIM:300884 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... |
OMIM:619389 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Optic atrophy, Hydrocephalus |
OMIM:619470 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Areflexia of lower limbs, Gait d... |
OMIM:311070 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy, Ventriculomegaly |
OMIM:620314 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Fried Syndrome |
|
Hydrocephalus, Abnormal optic nerve morphology, Gait disturbance |
ORPHA:85335 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Gl... |
ORPHA:411590 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Ankle clonus, Optic atrophy |
OMIM:618768 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction, Increased CSF protein concentration |
OMIM:124950 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Short femur, Hypoglycemia, Rhizomelia, Sandal gap, Hypoplasia ... |
OMIM:607143 |
Nescav Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Talipes equinovarus |
OMIM:614255 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615937 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
ORPHA:324416 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Camos Syndrome |
|
Optic atrophy, Ataxia |
ORPHA:83472 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Inability to... |
OMIM:613155 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormal foot morphology, Hydrocephalus, Inability to... |
ORPHA:99947 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, Hip dysplasia, Pes cavus, Ventriculomegaly |
OMIM:619701 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrop... |
OMIM:204200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Bilateral talipes equinovarus |
OMIM:618174 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance |
ORPHA:3151 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia |
ORPHA:104 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Talipes equinovarus, Optic atrophy, Spastic gait |
OMIM:613162 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Optic atrophy, Gait disturbance, Retinal dysplasia, Ventr... |
ORPHA:272 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy |
OMIM:617830 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Optic atrophy, Spastic gait |
OMIM:619052 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Diencephalic Syndrome |
|
Large hands, Hydrocephalus, Optic atrophy |
ORPHA:1672 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation |
OMIM:607091 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... |
ORPHA:1988 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Retinal degeneration |
OMIM:256730 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Optic atrophy, Short distal phalanx of finger |
ORPHA:2787 |
Merrf |
|
Optic atrophy, Ataxia |
ORPHA:551 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Pes cavus, Optic atrophy, Ataxia |
ORPHA:1171 |
Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic atrophy, Ga... |
ORPHA:588 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Talipes equinovarus, Difficulty walki... |
OMIM:615035 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Increased CSF lactate, Bradykinesia, Athetosis, Leber optic atrophy |
OMIM:500001 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Optic atrophy |
OMIM:271930 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Frontal encephalocele, Optic atrophy, Hydrocephalus |
ORPHA:1528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Elevated circulating creatine kinase c... |
OMIM:615181 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Hydrocephalus, Jaundice, Lym... |
ORPHA:858 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Decreased CSF copper concentration, Short tibia, Abnormal circulating ceruloplasmin ... |
OMIM:620306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:613151 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased Achilles reflex |
OMIM:613672 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Renal cyst |
OMIM:174050 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... |
ORPHA:254886 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Hydrocephalus, Optic atrophy, Genu valgum, Hypocalce... |
ORPHA:53 |
Lamb-Shaffer Syndrome |
|
Pes planus, Overlapping toe, Long fingers, Optic atrophy, Clinodactyly, Long hallux |
OMIM:616803 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Optic atrophy |
OMIM:620312 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... |
ORPHA:417 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... |
ORPHA:356961 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation, ... |
OMIM:618241 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Shuffling gait, Pes cavus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop... |
OMIM:164500 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Abnormal foot morphology |
ORPHA:397951 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Spastic Paraplegia 2, X-Linked |
|
Optic atrophy, Dysmetria, Loss of ambulation, Pes cavus, Spastic gait |
OMIM:312920 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... |
OMIM:613330 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Optic atrophy |
OMIM:300928 |
Optic Pathway Glioma |
|
Papilledema, Hydrocephalus, Neurofibroma, Optic atrophy, Fatigable weakness |
ORPHA:2086 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Lethargy, ... |
ORPHA:26792 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
OMIM:619425 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Sclerosteosis |
|
Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of... |
ORPHA:3152 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Optic atroph... |
OMIM:613154 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... |
OMIM:610199 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Microretrognathia, Hydrocephalus, Postaxial hand polydactyly, Chorioret... |
OMIM:220220 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Optic atrophy, Absent Achilles re... |
ORPHA:1215 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, Colpocephaly, Incre... |
OMIM:616034 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:617207 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Micrognathia, Optic atrophy, Talipes equinovarus, Retinopathy |
OMIM:616171 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Trimethylaminuria |
OMIM:602079 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fibrosis, ... |
ORPHA:466794 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ... |
ORPHA:33445 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... |
OMIM:214110 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Choreoathetosis, R... |
OMIM:300438 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Ventriculomegaly, Ataxia, Broad hallux, Splenomegaly, Hydrocephalus, Hypoplastic ve... |
OMIM:272200 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Knee flexion contracture |
OMIM:619303 |
Aceruloplasminemia |
|
Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac... |
OMIM:604290 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Diaphyseal thickening |
ORPHA:1513 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytop... |
ORPHA:49827 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Ataxia |
OMIM:258501 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy |
OMIM:617086 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia |
OMIM:620221 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia |
OMIM:616732 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Diabetes mellitus, Decreased/absent ankle reflexes, Optic atrophy, Progressive cerebellar ataxia,... |
ORPHA:1177 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating creatinine concentration, Portal... |
OMIM:619111 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... |
ORPHA:314588 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Hydrocep... |
OMIM:259710 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Pes planus, Dysmetria, Progressi... |
ORPHA:363429 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive meg... |
OMIM:249270 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Abnormal retinal morphology, Hypoplastic spleen, Adducted ... |
ORPHA:89844 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Dysmetria, Areflexia of lower limbs, Loss of ambulation, Hyporeflexia of lower lim... |
OMIM:616680 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Subependymal cysts, Hyperalaninemia |
OMIM:245349 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:605259 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
OMIM:615191 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Choro... |
OMIM:603671 |
L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia |
OMIM:236792 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:617082 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydroce... |
OMIM:613153 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Nephronophthisis 18 |
|
Hydrocephalus, Portal fibrosis, Retinitis, Cholestasis |
OMIM:615862 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites |
OMIM:614091 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic atrophy, Difficu... |
ORPHA:401768 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... |
OMIM:608940 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Femur fracture, Facial palsy, Thrombocytopenia, Hydrocephalus, Spleno... |
OMIM:259700 |
Sarcosinemia |
|
Peroneal muscle weakness, Hypersarcosinemia, Optic atrophy, Ataxia |
ORPHA:3129 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate va... |
ORPHA:2237 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Aqueductal stenosis, Absent thumb, Absent radius, Humeroradial synostos... |
OMIM:251230 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Krabbe Disease |
|
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, I... |
OMIM:245200 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... |
OMIM:236700 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity, Pes cavus |
ORPHA:99014 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Short distal... |
ORPHA:1914 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... |
OMIM:113650 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Neu... |
ORPHA:79312 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow... |
ORPHA:168549 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Cardio... |
OMIM:608836 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of the kidney, Cholangitis, Portal h... |
ORPHA:480520 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Lissencephaly 8 |
|
Occipital encephalocele, Elevated circulating creatine kinase concentration, Optic atrophy, Talip... |
OMIM:617255 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Facial dipl... |
OMIM:617302 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Optic atrophy |
OMIM:274270 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Behr Syndrome |
|
Ataxia, Achilles tendon contracture, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysm... |
OMIM:210000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy, Ataxia |
ORPHA:329314 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:380 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Hsd10 Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Ventriculomegaly |
ORPHA:391417 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Broad hallux phalanx, Hepatomegaly, Splenomegaly, Hydrocepha... |
ORPHA:585 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hip dislocation, Talipes equinovarus, Hip dysplasia |
ORPHA:250994 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,... |
OMIM:175700 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Optic Atrophy 1 |
|
Optic atrophy, Ataxia |
OMIM:165500 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Ab... |
ORPHA:457205 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614559 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Facial diplegia, Optic atrophy, Diaphyseal sclerosis |
OMIM:122860 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Di... |
OMIM:263520 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Talipes, Micrognathia, Optic atrophy, Ventriculomegaly |
ORPHA:1495 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoa... |
ORPHA:27 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Ataxia, Optic atrophy, Lethargy, Ventriculomegaly |
OMIM:618228 |
Prune1-Related Neurological Syndrome |
|
Elevated circulating creatine kinase concentration, Micrognathia, Inability to walk, Optic atroph... |
ORPHA:544469 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Leth... |
ORPHA:289916 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Ataxia, Micrognathia, Coxa valga, Hydrocephalus, Optic atrophy, Colpocephaly,... |
OMIM:619833 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Ataxia, Elevated ... |
OMIM:615673 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hydrocephalus, Splenomegaly, Hepatosplenomegaly, CS... |
OMIM:610333 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Splenomegaly, Jaundice, Cryptorchidis... |
OMIM:614866 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal autonomic ... |
OMIM:598500 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, E... |
ORPHA:26791 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, H... |
OMIM:620157 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Calf muscle pseudohypertro... |
ORPHA:370959 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Inability to walk, Ataxia, Optic atrophy, Dysmetria |
OMIM:617954 |
Marinesco-Sjögren Syndrome |
|
Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpholo... |
ORPHA:559 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... |
OMIM:613390 |
Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce... |
OMIM:614877 |
Walker-Warburg Syndrome |
|
Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Hydrocephalus, ... |
ORPHA:899 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Hyperal... |
ORPHA:254881 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Optic atrophy, Ataxia |
OMIM:619310 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Ataxia, Acanthocytosis, Retinopathy, Peripheral demyelination, Retinal dege... |
OMIM:200100 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Opti... |
ORPHA:791 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Renal cyst |
OMIM:231060 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Abnormal cerebrospinal fluid morphology, Ankle swelling, ... |
ORPHA:448237 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Inability to walk, Optic atrophy, Absent Achilles reflex, Ankle clonus, Pes ca... |
OMIM:609541 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of... |
ORPHA:363417 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy |
ORPHA:254343 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Hyperuricemia, Coar... |
ORPHA:2801 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Pancreatitis, Increased CSF lactate |
OMIM:618230 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Overlapping toe, Tapered finger, Optic atrophy, Gait ataxia, Hip dysplasia, Bil... |
OMIM:617807 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Trunca... |
OMIM:601338 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Ataxia, Hydrocephalus, Optic atrophy, Dysmetria, Hepatospl... |
ORPHA:93400 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P... |
OMIM:607115 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Spina bifida occulta, Ataxia, Optic disc pallor |
OMIM:615281 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Attenuation of retin... |
OMIM:617166 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Increased CSF lactat... |
OMIM:615838 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait |
OMIM:617964 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Optic atrophy, Choreoathetosis, Clinodactyly of the 5th finger, Pes cavus, Retinopathy |
OMIM:619422 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Optic atrophy, Increased CSF lactate |
OMIM:618238 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Postaxial polydac... |
OMIM:614576 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentrati... |
ORPHA:772 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Developmental And Epileptic Encephalopathy 61 |
|
Loss of ambulation, Optic atrophy |
OMIM:617933 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia |
ORPHA:1532 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Optic atrophy, Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
Temple Syndrome |
|
Hydrocephalus, Small hand, Short foot, Recurrent hypoglycemia, Type II diabetes mellitus, Clinoda... |
ORPHA:254516 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Trisomy X |
|
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia |
ORPHA:3375 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, Pes cavus, Spastic... |
OMIM:270800 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal foot morphology, Hydrocephalus, Vacuolated ... |
OMIM:269920 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Chorioretinal coloboma, Dandy-Walker malformation |
ORPHA:163961 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Ventriculomegaly, Retinal neovascularization, Micrognathia |
OMIM:619074 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... |
OMIM:619260 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Optic atrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Difficulty walking |
OMIM:612319 |
Adams-Oliver Syndrome 2 |
|
Micrognathia, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Absent distal phalanges... |
OMIM:614219 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Micromelia, Abnormal thumb morphology, Optic atrop... |
ORPHA:1597 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia |
OMIM:605231 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri... |
OMIM:612674 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Patellar subluxation, Optic atrophy, Genu valgum |
OMIM:248000 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria |
OMIM:203450 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,... |
OMIM:614120 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... |
ORPHA:96180 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ... |
ORPHA:84064 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Jau... |
ORPHA:381 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Optic atrophy, Hand polydactyly, Foot polydacty... |
ORPHA:60040 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Hydro... |
ORPHA:59315 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Recurrent urinary... |
OMIM:615559 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Cln3 Disease |
|
Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, Pigmentary r... |
ORPHA:228346 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Broad hallux, Elevated circulating hexacosanoic acid concentration, Optic atro... |
OMIM:614388 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Optic atrophy, Ataxia |
ORPHA:2289 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Dpm1-Cdg |
|
Hepatic steatosis, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Sand... |
ORPHA:79322 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Hydrocephalus, Metaphyseal widening, Optic atrophy, Diaphyseal sclerosi... |
OMIM:618476 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, ... |
OMIM:602361 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa... |
OMIM:605282 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acalvaria |
|
Talipes, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly |
ORPHA:945 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Athetosis, Dandy-Walker malformation |
OMIM:617235 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Seckel Syndrome 10 |
|
Microretrognathia, Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitu... |
OMIM:617253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Femur fracture, Splenomegaly, Hydrocephalus, Optic atrophy, Anemia, Lateral ventric... |
OMIM:612301 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxia... |
OMIM:616300 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Split hand, Optic atrophy, Facial palsy, Ataxia |
OMIM:614707 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... |
ORPHA:2751 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Optic atrophy, Elevated CSF neopterin level, Difficulty walking, Decrea... |
ORPHA:79097 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Optic atrophy, Deviation of finger, Bilateral talipes equinovarus, Congenital fin... |
ORPHA:1154 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Hydrocephalus, Small ha... |
OMIM:616222 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Ataxia, Dysmetria |
OMIM:618688 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Optic atrophy, Hyperammonemia, Increased CSF lactate, Choreoathetosis, Loss of ambu... |
ORPHA:391428 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Optic atrophy, Gait disturbance |
OMIM:603896 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Genu recurvatum, Lower limb ... |
ORPHA:2969 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatob... |
ORPHA:96334 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abnormal abdomen morphology, Multip... |
OMIM:216360 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Triple A Syndrome |
|
Plantar hyperkeratosis, Ataxia, Optic atrophy, Abnormality of the calf musculature, Palmoplantar ... |
ORPHA:869 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Kniest Dysplasia |
|
Retinal detachment, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal os... |
OMIM:156550 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Increased CSF lactate |
OMIM:618233 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Optic disc pallor, Ataxia, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:612936 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic ... |
ORPHA:97229 |
L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Adducted thumb |
ORPHA:275543 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pes cav... |
OMIM:607259 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform... |
OMIM:249000 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Increased CSF protein concentration, Optic neuropathy, Axonal degeneration, Optic atrophy, Increa... |
OMIM:616811 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased CSF protein concentration, Facial palsy, Elevated circulating creatine kinase concentra... |
OMIM:258450 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Microg... |
OMIM:259720 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Pes planus, Aganglionic megacolon, Hydrocephalus, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Optic atrophy, Limited mob... |
OMIM:222300 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Ataxia, Hydrocephalus, Hand polydactyly,... |
ORPHA:220493 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Thrombocytopenia, Optic atrophy, Dysmetria, Athetosis, Rod-cone dystrophy, ... |
OMIM:617710 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse... |
OMIM:300863 |
Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... |
OMIM:535000 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Inability to walk, Optic atrophy, Hyperammonemia, Hyperalaninemia |
OMIM:614739 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Retinal degeneration |
OMIM:615249 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Unsteady gait, Optic atrophy, Leg muscle stiffness,... |
ORPHA:137898 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype... |
ORPHA:401866 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Optic atrophy, Increased hepatic echogenicity,... |
OMIM:261680 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, P... |
OMIM:607361 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Perit... |
ORPHA:400 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Hepatocellular necrosis, Increased CSF lactate, Pigmentary retinopathy |
OMIM:256000 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Optic atrophy, Hyperammonemia, Increased CSF lactate, Neutropenia, Loss of ambulati... |
OMIM:618253 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Micrognathia, Inability to walk, Talipes equinovalgus, Opti... |
OMIM:617183 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
X-Linked Intellectual Disability, Najm Type |
|
Optic nerve hypoplasia, Micrognathia, Optic atrophy, Gait disturbance, Chorioretinal coloboma |
ORPHA:163937 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Pes planus, Ataxia, Optic atrophy, Hip dislocation, Unilateral facial palsy, Rod-cone dystrophy, ... |
OMIM:618547 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t... |
ORPHA:2635 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Ataxia, Retinal dystrophy, Hydrocephalus, Hand polydactyly,... |
ORPHA:2318 |
Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor, Pes planus |
OMIM:619328 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Central Neurocytoma |
|
Lethargy, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
Developmental And Epileptic Encephalopathy 28 |
|
Hand clenching, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Cach Syndrome |
|
Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, Limb ataxia, Hepatosplenomegaly, Lateral ve... |
ORPHA:135 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... |
ORPHA:805 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Optic atrophy, Increased CSF lactate, Pigmentary retinopathy, Fatigable wea... |
ORPHA:436271 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis |
ORPHA:504476 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait d... |
ORPHA:98755 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Abdominal mass, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atre... |
OMIM:615989 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Rod... |
ORPHA:216866 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Hydrocephalus, Shoulder dislocation, Gait disturbance, Adducted thumb |
ORPHA:2181 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... |
OMIM:208500 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Coxa valga, Splenomegaly, Optic atrophy, Hypoplastic vertebral bodies, Gait... |
OMIM:230600 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Ataxia, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, F... |
OMIM:300232 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Ataxia, Hydrocephalus, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, G... |
ORPHA:395 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hepatomegaly, Ataxia, Portal hypertension, Congenital hepatic fibrosis, ... |
ORPHA:1454 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Hepatomegaly, Ataxia, Pigmentary retinopathy, Prolong... |
OMIM:612291 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Hydrocephalus, Thrombocytopenia... |
OMIM:617053 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Micrognathia |
OMIM:607196 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly |
OMIM:602501 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Cohen Syndrome |
|
Pes planus, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, B... |
OMIM:216550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Elevated circulating creatine kinase concentration, Hydrocepha... |
OMIM:253800 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Abnormal foot mo... |
ORPHA:95 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Ventriculomegaly |
OMIM:613638 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Broad thumb, Micrognathia |
ORPHA:3173 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, ... |
ORPHA:3078 |
Wildervanck Syndrome |
|
Meningocele, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Morning glory anomaly, Postaxial polydactyly, Hydrocephalus, Meningocele, ... |
OMIM:614424 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... |
OMIM:618249 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Optic disc pallor, Hyperprolinemia |
OMIM:619170 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Hydrocephalus, Postaxial hand ... |
OMIM:241800 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... |
OMIM:615219 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Optic atrophy, Short metatarsal, Cone-shaped epiphysis, Ventriculomegaly |
OMIM:613328 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... |
ORPHA:261265 |
Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Gait ataxia, Choreoathetosis... |
OMIM:304340 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Optic atrophy, Holoprosencephaly, Ab... |
ORPHA:1590 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Ab... |
ORPHA:163966 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Hypoglycemia, Megaloblastic ... |
ORPHA:79282 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Peroneal muscle weakness, Optic neu... |
ORPHA:101076 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Hyperhomocystinemi... |
ORPHA:2169 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... |
ORPHA:247691 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
3-Methylglutaconic Aciduria, Type I |
|
Athetosis, Optic atrophy, Ataxia |
OMIM:250950 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Diabetes mellitus, Ataxia, Morning glory anomaly, Optic atrophy, Gait disturba... |
ORPHA:98673 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Optic atrophy |
ORPHA:263516 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Slender long bone, Lateral ventricle dilatation, Episod... |
ORPHA:420179 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Inability to walk, Hydrocephalus, Gait ataxia, Hip dysplasia... |
OMIM:616362 |
Primary Angiitis Of The Central Nervous System |
|
CSF pleocytosis, Abnormal CSF protein concentration, Pseudopapilledema, Ataxia |
ORPHA:140989 |
Friedreich Ataxia |
|
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Areflexia of lower limbs, Dec... |
OMIM:229300 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
Hurler Syndrome |
|
Hepatomegaly, Hypoplasia of the femoral head, Coxa valga, Hypoplasia of the odontoid process, Hyd... |
OMIM:607014 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... |
OMIM:602111 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Loss of ambulation |
ORPHA:225154 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Optic atrophy, Hyperglycinemia, Increased CSF glycine concentration, Lethargy |
OMIM:614299 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Thrombocytopenia, Optic atrophy, Anemia, Talipes equinovarus, Camptodactyly... |
ORPHA:79325 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal stenosis, Abnormality of the lo... |
ORPHA:3035 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... |
OMIM:602579 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Hydrocephalus, Micrognathia |
ORPHA:1516 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Bresek Syndrome |
|
Hydrocephalus, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly |
ORPHA:85284 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... |
ORPHA:15 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Meningococcal Meningitis |
|
Papilledema, Elevated circulating C-reactive protein concentration, CSF pleocytosis, Hypoglycorrh... |
ORPHA:33475 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Club-shaped distal femur, ... |
OMIM:218400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Retinal dystrophy, Elevated circulating creatine kinase concentration, Ventriculom... |
OMIM:616538 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Optic atrophy, Sho... |
OMIM:101800 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tapered finger, Optic atrophy, Dysmetria, Gait ataxia, Step... |
OMIM:616505 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Increased CSF lactate |
OMIM:618240 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... |
OMIM:201000 |
Arts Syndrome |
|
Optic atrophy, Ataxia |
OMIM:301835 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Palmoplantar keratoderma, Rod-co... |
ORPHA:324737 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Optic atrophy, Hyperammonemia, Hyperalaninemia, Rod-cone dystrophy, Lethargy |
ORPHA:254913 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:617276 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde... |
OMIM:200980 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb... |
OMIM:250100 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy |
ORPHA:207 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Decreased CSF biopterin level, Axon... |
ORPHA:404454 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Hand polydactyly, Optic atrophy, Gait disturbance |
ORPHA:2971 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Spli... |
OMIM:309900 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, H... |
OMIM:620155 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Positional foo... |
ORPHA:496790 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop... |
OMIM:236670 |
B4Galt1-Cdg |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, De... |
ORPHA:79332 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal depo... |
ORPHA:397715 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Retinal dystrophy, Abnormal foot morphol... |
OMIM:608091 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Optic atrophy, Choreoathetosis, ... |
OMIM:608804 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
6P22 Microdeletion Syndrome |
|
Clinodactyly, Finger syndactyly, Hydrocephalus |
ORPHA:251046 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hypoglycemia, Hydrocephalus, Gait ataxia, Ventriculomegaly |
OMIM:616355 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ... |
OMIM:224400 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Splenomegaly, Crypt... |
ORPHA:567 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Ataxia, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Abnormal hip ... |
ORPHA:2720 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Lymp... |
OMIM:618495 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Micrognathia, Hydrocephalus, Radioulnar synostosis, Sho... |
ORPHA:171839 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Pes c... |
OMIM:601152 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Glycosuria, Rod-cone d... |
OMIM:268315 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemi... |
ORPHA:2609 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short 4th metacarpal |
ORPHA:2183 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Lethargy |
ORPHA:238624 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Choreoathetosis, Symmetrical progressive peripheral de... |
OMIM:231670 |
3C Syndrome |
|
Finger syndactyly, Ventriculomegaly, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Ha... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Optic atrophy, Hyperammonemia, Hypoglycemia |
OMIM:614702 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Broad hallux, Overlapping toe, Micrognathia, Microcytic anemia, Insulin-resistant diabetes mellit... |
ORPHA:293967 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Vent... |
ORPHA:93274 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Increased CSF lactate, Ankle clonus, Late... |
ORPHA:565624 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, 2-3 toe syndactyly, Cutane... |
ORPHA:314389 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat... |
ORPHA:1908 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy, Gait ataxia |
OMIM:618800 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Clinodactyly, Hydrocephalus, Ventriculomegaly, Micrognathia |
OMIM:618577 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo... |
ORPHA:2655 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
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Fundus atrophy, Optic atrophy, Dandy-Walker malformation, Short distal phalanx of finger |
ORPHA:1970 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
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Optic atrophy, Bradykinesia, Gait disturbance, Shuffling gait, Motor axonal neuropathy |
ORPHA:289560 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Hydrocephalus |
OMIM:258320 |
Leukodystrophy, Hypomyelinating, 6 |
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Choreoathetosis, Optic atrophy, Ataxia |
OMIM:612438 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Broad toe, Rocker bottom foot, Hydrocephalus, Pigmentary retinopathy, Hip dysplasia, Short 2nd to... |
OMIM:612582 |
Ogden Syndrome |
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Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Jau... |
OMIM:300855 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... |
ORPHA:465508 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... |
OMIM:616084 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
OMIM:617100 |
Sturge-Weber Syndrome |
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Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Hydrocepha... |
ORPHA:3205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, 11 pairs of ribs, Elevate... |
OMIM:615287 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Ataxia, Micrognathia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy |
OMIM:256600 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Tetraamelia-Multiple Malformations Syndrome |
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Septo-optic dysplasia, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Aplasia/Hypoplas... |
ORPHA:3301 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Meckel Syndrome |
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Encephalocele, Accessory spleen, Bowing of the long bones, Abnormal chorioretinal morphology, Tal... |
ORPHA:564 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
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Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi... |
OMIM:251900 |
15q26 overgrowth syndrome |
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Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Pontocerebellar Hypoplasia, Type 7 |
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Ataxia, Micrognathia, Hydrocephalus, Optic atrophy, Choreoathetosis, Ventriculomegaly |
OMIM:614969 |
Camurati-Engelmann Disease |
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Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Hemangioblastoma |
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Retinal capillary hemangioma, Hydrocephalus |
ORPHA:252054 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Optic atrophy |
OMIM:615236 |
Hajdu-Cheney Syndrome |
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Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Optic disc pallor, Micrognathia, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy... |
ORPHA:502423 |
Knobloch Syndrome |
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Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
Joubert Syndrome 7 |
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Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Thanatophoric Dysplasia, Type I |
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Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Fanconi Anemia, Complementation Group B |
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Optic disc hypoplasia, Aplastic anemia, Absent thumb, Thrombocytopenia, Hydrocephalus, Bilateral ... |
OMIM:300514 |
Papillorenal Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
Senior-Boichis Syndrome |
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Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Dilated fourth ventricle, Optic atr... |
OMIM:164400 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
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Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Lo... |
OMIM:617282 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Nephronophthisis-Like Nephropathy 1 |
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Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Orofaciodigital Syndrome I |
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Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat... |
OMIM:311200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Spinocerebellar Ataxia Type 13 |
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Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Difficulty walking |
ORPHA:98768 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
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Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly, Hepatosplenomegaly |
ORPHA:466934 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Hepatic ... |
OMIM:614922 |
Floating-Harbor Syndrome |
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Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... |
ORPHA:2044 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cystic liver disea... |
OMIM:612284 |
Mucopolysaccharidosis Type 1 |
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Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Split hand, Optic atrophy, Abnormal epip... |
ORPHA:579 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
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Hydrocephalus, Postaxial hand polydactyly |
ORPHA:83473 |
Canavan Disease |
|
Increased CSF N-acetylaspartic acid concentration, Optic atrophy, Increased circulating N-acetyla... |
OMIM:271900 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Muenke Syndrome |
|
Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis |
ORPHA:53271 |
Primary Ciliary Dyskinesia |
|
Asplenia, Hydrocephalus, Clubbing, Polysplenia, Rod-cone dystrophy, Ventriculomegaly |
ORPHA:244 |
Omodysplasia 1 |
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Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Pes planus, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Ankle clonus, Loss of ambu... |
OMIM:615491 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy |
OMIM:616562 |
Pantothenate Kinase-Associated Neurodegeneration |
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Toe extensor amyotrophy, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Fractures ... |
ORPHA:157850 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Normochromic microcytic anemia, Nonprogr... |
OMIM:610198 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Hydrocephalus, Ulnar b... |
OMIM:100800 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Pes planus, Hydrocephalus |
OMIM:618302 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Renal cys... |
ORPHA:79303 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Communicating hydrocephalus |
ORPHA:2119 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Joubert Syndrome 1 |
|
Optic disc pallor, Enlarged fossa interpeduncularis, Retinal dystrophy, Ataxia, Postaxial hand po... |
OMIM:213300 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Portal hypertension, Abnormality of the... |
ORPHA:974 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic syst... |
ORPHA:464329 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Inability to walk, Metaphyseal widening, Thrombocytopenia, Optic atrophy, Clubbing,... |
OMIM:617303 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Anencephaly, Preaxial polyda... |
OMIM:616546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Optic atrophy, Truncal ataxia, Increased CSF lactate, Pigmentary retinopath... |
OMIM:220110 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Alexander Disease Type I |
|
Hydrocephalus, Ataxia |
ORPHA:363717 |
Roberts Syndrome |
|
Clitoral hypertrophy, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombocytopenia |
ORPHA:3103 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Loss of ambulation, Cherry re... |
ORPHA:93399 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia,... |
OMIM:619259 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrocephalus, Hyperhomocystinem... |
OMIM:277400 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
Meckel Syndrome, Type 10 |
|
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, B... |
ORPHA:445038 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... |
OMIM:611134 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of finger, Slender finger |
ORPHA:1895 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly |
OMIM:109120 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:2715 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Retinal hemorrhage, Athetosis, Fasting hypoglycemia, Subepen... |
ORPHA:25 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Micrognathia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation |
OMIM:620089 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, ... |
ORPHA:1865 |
Peho Syndrome |
|
Tapered finger, Hydrocephalus, Optic atrophy, Pedal edema, Ventriculomegaly |
ORPHA:2836 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ventriculomegaly, Ataxia, Adenoiditis, Avascular necrosis of the capital femoral ep... |
ORPHA:581 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait... |
OMIM:614863 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Hydrocephalus, Optic atrophy, Ataxia |
ORPHA:220295 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly, Micrognathia |
ORPHA:238769 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth, Ataxia |
ORPHA:1861 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, Hydrocephalus, Humeroradial s... |
OMIM:260660 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... |
ORPHA:75233 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Ro... |
OMIM:601539 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Optic atrophy, Prolonged neonatal jaundice |
OMIM:618868 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Preaxial polydactyly, Reti... |
OMIM:243605 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Optic atrophy, Increased CSF lactate, Increased cup-to-disc ratio, Hip subluxation, Ventriculomegaly |
ORPHA:500144 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Abnormal foot morphology, Hydrocephalus |
OMIM:615599 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Acrootoocular Syndrome |
|
Short metacarpal, Sandal gap, Abnormal finger flexion crease, Micrognathia, Short toe, Cutaneous ... |
ORPHA:2980 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Mediastinal lymp... |
ORPHA:91138 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... |
OMIM:619471 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Extra-axial cerebrospinal fluid accumulation, Optic atrophy, Ventriculomegaly, Hypoplastic optic ... |
OMIM:617669 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:614298 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Gait disturbance, Ventriculomegaly, Micrognathia |
OMIM:609757 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Micrognathia, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodactyly of the... |
OMIM:619320 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Ataxia, Mediastinal lymphadenopathy, Insulin resistance, Hydrocephalu... |
ORPHA:3452 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, 2-3 finger syndact... |
ORPHA:2437 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve... |
ORPHA:1187 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Talipes, Akinesia, Micrognathia, Hydrocephalus, Hydranencephaly, Dandy-Walker m... |
OMIM:225790 |
Stankiewicz-Isidor Syndrome |
|
Absent thumb, Micrognathia, Short thumb, 2-3 toe syndactyly, Abnormal optic disc morphology |
OMIM:617516 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Mpdu1-Cdg |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Ventriculomegaly |
ORPHA:79323 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Cryptorchidism, H... |
OMIM:134780 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Optic atrophy, Hip dislocation, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614381 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Hydrocephalus |
OMIM:300558 |
Mohr Syndrome |
|
Syndactyly, Micrognathia, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, F... |
OMIM:252100 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Lethargy |
OMIM:253260 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Hydrocephalus, Short toe, A... |
OMIM:269860 |
Hurler Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, N... |
ORPHA:93473 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Broad-based gait, Pes planus, Broad toe, Optic nerve hypoplasia, Micrognathia,... |
ORPHA:93932 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Spina bifida, Micrognathia, Optic atrophy, Ventriculomegaly |
ORPHA:99742 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Leukocytosis, Optic atrophy, Genu valgu... |
OMIM:619321 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Choroid plexus cyst, Patellar hypoplasia, Talipes equinovarus, Preaxi... |
ORPHA:1827 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus |
OMIM:312190 |
Dysosteosclerosis |
|
Optic atrophy, Abnormal cranial nerve morphology, Hypoplastic vertebral bodies, Abnormal metaphys... |
ORPHA:1782 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pes planus, Congenital hip dislocation, Hypoglycemia, Micrognathia, Tapered finger, Hypoplasia of... |
OMIM:616007 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Op... |
ORPHA:87 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopenia, Hydrocephalus, S... |
ORPHA:398124 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Optic nerve hypoplasia, Micrognathia, Metatarsus adductus, Inability to walk, Sma... |
ORPHA:300570 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Ventriculomegaly |
OMIM:610651 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Optic atrophy |
ORPHA:496756 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Micrognathia, Abnormal foot morphology, Hydrocephalus, Cutaneous syndactyly, Tal... |
OMIM:617822 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... |
ORPHA:2869 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... |
OMIM:193300 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb |
OMIM:276950 |
Halperin-Birk Syndrome |
|
Micrognathia, Inability to walk, Optic atrophy, Hip dislocation, Colpocephaly, Talipes equinovaru... |
OMIM:618651 |
Dural Sinus Malformation |
|
Myelopathy, Papilledema, Hydrocephalus, Ataxia |
ORPHA:97339 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy, Hypoglycemia |
OMIM:608688 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... |
OMIM:278000 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy |
OMIM:300322 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ... |
OMIM:127000 |
Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Optic atrophy, Abnormal metaphyseal trabeculation, Flared m... |
OMIM:224300 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia... |
ORPHA:3412 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Facial palsy, Hydrocephalus, Slender toe, Dandy-Walker malformation |
OMIM:310400 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Genu recurvatum, Overlapping toe, Optic atrophy, Hip dislocation, Talipes equino... |
OMIM:617301 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Talipes, Hydrocephalus, Split hand, Anencephaly, Abnormal tibi... |
ORPHA:1335 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc... |
OMIM:108720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Splenomegaly, Hydrocephalus, Lymphadenopathy, Hypocalcemi... |
ORPHA:667 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Ataxia, Hepatosplenomegaly |
ORPHA:309288 |
Congenital Disorder Of Glycosylation, Type If |
|
Ventriculomegaly, Optic atrophy, Ataxia |
OMIM:609180 |
Trisomy 13 |
|
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... |
ORPHA:3378 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Hydrocephalus, Thrombocytopenia, Optic at... |
ORPHA:505248 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal... |
OMIM:216400 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy |
OMIM:207950 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Ataxia, Hydrocephalus, Hand polydactyly, Gait disturbance, ... |
ORPHA:475 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Triploidy |
|
Finger syndactyly, Hepatomegaly, Micrognathia, Abnormality of the pancreas, Hydrocephalus, Mening... |
ORPHA:3376 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
47,Xyy Syndrome |
|
Congenital stationary night blindness, Hydrocephalus, Finger clinodactyly |
ORPHA:8 |
Jacobsen Syndrome |
|
Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, ... |
OMIM:147791 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Brachydactyly |
ORPHA:2701 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Type II diabetes mellitus, Ataxia |
OMIM:604121 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... |
ORPHA:1318 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Camptodac... |
ORPHA:90652 |
Cryptococcosis |
|
Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Hydrocephalus, Perit... |
ORPHA:1546 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Inability to walk, Optic atrophy,... |
ORPHA:845 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Marshall-Smith Syndrome |
|
Slender long bone, Bowing of the long bones, Optic atrophy, Ventriculomegaly |
ORPHA:561 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... |
ORPHA:1655 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Retinal atrophy, Elevated circulating creatine kinase concentration, Micrognath... |
OMIM:253280 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated circulating ac... |
OMIM:616878 |
Holoprosencephaly |
|
Hyponatremia, Encephalocele, Diabetes mellitus, Hypoglycemia, Talipes, Abnormality of the spleen,... |
ORPHA:2162 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Knee dislocation, Shoulder dislocation, Dislocated radial head, Microretrognathia, ... |
OMIM:245600 |
Coccidioidomycosis |
|
Abnormal retinal morphology, Eosinophilia, CSF pleocytosis, Hydrocephalus, Abnormality of the spl... |
ORPHA:228123 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Ataxia, Arachnodactyly, Coxa valga, Inability to walk, Metaphyseal widening, H... |
OMIM:620083 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Macrovesicular hep... |
OMIM:618329 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Prolonged neonatal jau... |
OMIM:210710 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar cutis gyrata, Abnormality of the pancreas, Hydrocephalus, Optic atrophy, Palmoplanta... |
ORPHA:1555 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Hydrocephal... |
OMIM:619951 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Leukocytosis, Increased CSF lactate, Hypercholesterolemia, Hyp... |
ORPHA:90065 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:616683 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Pes planus, Decreased distal sensory nerve action potential, Inability to walk, Abnormal foot mor... |
ORPHA:99956 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Thrombocytopenia... |
OMIM:612199 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia |
ORPHA:90037 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy |
OMIM:123500 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Slender long bone, Hydrocephalus, Optic atrophy |
OMIM:618590 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Hydrocepha... |
OMIM:619377 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Aase-Smith Syndrome I |
|
Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation |
OMIM:147800 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Hypochromic microcytic anemia, Normochro... |
ORPHA:66634 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Micrognathia, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger, Microre... |
ORPHA:508498 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
15Q Overgrowth Syndrome |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 3rd finger, Contractu... |
ORPHA:314585 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Primary adrena... |
ORPHA:912 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Equinovarus deformity, Axonal degeneration, Optic atrophy, Scissor gait, Choreoathetosis,... |
OMIM:278800 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Missing ribs, Micrognathia, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Secondary amenorrhea, Renal cyst, Type I diabet... |
ORPHA:488618 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Short... |
OMIM:615636 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Unsteady gait |
OMIM:617542 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... |
ORPHA:261344 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Tapered finger, Short toe, Hydrocephalus, Athetosis, Delayed ossification ... |
OMIM:239300 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Inabili... |
OMIM:617913 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Ataxia, Hydrocephalus, Hand polydactyly, Gait disturbance |
ORPHA:220497 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Ataxia, Unsteady gait, Optic atrophy, Small hand, Increased CSF lactate |
OMIM:614947 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... |
OMIM:615512 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteolysis ... |
ORPHA:371428 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Sandal gap, Brachydactyly |
ORPHA:2180 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Talipes, Micrognathia, Achilles tendon contracture, Knee contract... |
OMIM:620351 |
Tenorio Syndrome |
|
Hypoglycemia, Hydrocephalus, Gait disturbance, Hypoinsulinemia, Ventriculomegaly |
OMIM:616260 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Portal... |
OMIM:615688 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Ankle clonus, Abnormal circulating cholesterol concentration, Difficul... |
OMIM:213700 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Gorlin Syndrome |
|
Hydrocephalus, Plantar pits, Arachnodactyly, Brachydactyly |
ORPHA:377 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... |
OMIM:613776 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia asso... |
ORPHA:616 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... |
OMIM:257300 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Hydrocephalus, Annular pancreas, 2-3 toe syndactyly, Knee flexion contracture, Irregu... |
OMIM:618162 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Broad-based gait, Pancytopenia, Abnormality of the spleen, Hydrocepha... |
ORPHA:2072 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia... |
OMIM:618775 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Multiple renal ... |
ORPHA:99776 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Micrognathia, Hy... |
ORPHA:536467 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Small hand, Short foot, Hip dysplasia, Gait disturbance, Dilated third ventricle, ... |
ORPHA:500055 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
ORPHA:480536 |
H Syndrome |
|
Hallux valgus, Pes planus, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Hydrocepha... |
ORPHA:168569 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Talipes, Micrognathia, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphy... |
OMIM:210730 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... |
ORPHA:261494 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... |
OMIM:610505 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Cholecystitis, Incre... |
ORPHA:309263 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Optic disc pallor, Normocytic anemia, Rocker bottom foot, Akinesia, Micrognathi... |
OMIM:618947 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Hypot... |
OMIM:212065 |
Monosomy 18Q |
|
Pes planus, Arachnodactyly, Abnormal retinal morphology, Tapered finger, Hydrocephalus, Choreoath... |
ORPHA:1600 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Hydrocephalus, Camptodactyly, Dandy-Walker malformation |
OMIM:614846 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Delayed p... |
OMIM:232220 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... |
ORPHA:49 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Hydrocephalus, Humeroradial synostosis, Ulnar bowing, Femoral... |
OMIM:207410 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Palmoplantar hyperkeratosis, Abnormal autonomic n... |
OMIM:231550 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Foot polydactyly, Chorioretinal coloboma, Short palm |
ORPHA:268249 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Metatarsus adductus, Hypoplasia of the odontoid process, Hydrocephalus, Splenomegal... |
OMIM:253220 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Retinal dystrophy, Tapered finger, Duplication of distal phalan... |
ORPHA:324540 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Talipes equinovarus, Decreased sensory... |
ORPHA:320375 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly, Knee flexion contracture |
OMIM:603387 |
Craniopharyngioma |
|
Papilledema, Hydrocephalus, Optic atrophy, Type II diabetes mellitus |
ORPHA:54595 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Cortical ... |
ORPHA:93325 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia,... |
ORPHA:168577 |
Mend Syndrome |
|
Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Hydrocephalus, 2-3 ... |
OMIM:300960 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Pes planus, Micrognathia, Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation |
ORPHA:459061 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Pes cavus, Ventriculomegaly, Attenuation of retinal blood vessels |
OMIM:610965 |
Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Postaxial polydactyly, Micrognathia, Asplenia, Short ... |
ORPHA:221120 |
Gaucher Disease |
|
Hepatomegaly, Ventriculomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein con... |
ORPHA:355 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Hydrocephalus, Colpocephaly, Ventriculomegaly, Brachydactyly |
OMIM:620156 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hydrolethalus |
|
Micromelia, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly |
ORPHA:2189 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Retinal dystrophy, Micrognathia, Aqueductal stenosis, Long fingers, H... |
OMIM:619512 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal fibula morphology, Gait disturbance, Ventriculomegaly |
ORPHA:1812 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... |
ORPHA:909 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... |
ORPHA:2473 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... |
OMIM:260920 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Peripheral axonal neuropathy, Micrognathia, Splenomegaly... |
OMIM:115150 |
Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Hyperammonemia, Lethargy |
ORPHA:79241 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... |
OMIM:268300 |
Diabetic Embryopathy |
|
Abnormality of the pancreas, Hydrocephalus, Micrognathia, Spinal dysraphism |
ORPHA:1926 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Hydrocephalus, Optic atrophy, Palmoplantar cutis laxa, Ventriculomegaly |
OMIM:123790 |
Baller-Gerold Syndrome |
|
Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial deviation... |
OMIM:218600 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Sho... |
OMIM:618188 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Agonadism, Abn... |
ORPHA:991 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly |
OMIM:314390 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardio... |
OMIM:130650 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Micrognathia, Long fingers, Hydrocephalus, Talipes equinovarus, Cl... |
ORPHA:3309 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Abnormal foot morphology, Optic atrophy, Choreoathetosis, Pigme... |
OMIM:234200 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Optic disc coloboma, Optic... |
ORPHA:50 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Talipes calcaneovalgus, Dysdiadochokinesis |
OMIM:610217 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Thrombocytopenia |
OMIM:619980 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citrulline, Op... |
ORPHA:255210 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa |
OMIM:616482 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod... |
ORPHA:457284 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Hypoglycemia, Optic neuropathy, Splenomegaly, Increased ... |
OMIM:252010 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hepatomegaly, Hypoplasia of the odontoid process, Hydrocephalus, Metaphysea... |
OMIM:253200 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de... |
OMIM:619774 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypothyroidism |
OMIM:618829 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp... |
OMIM:191100 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hydrocephalus, Cholelithiasis, Hyperbil... |
OMIM:614886 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Po... |
OMIM:605627 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Desmosterolosis |
|
Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Ventriculome... |
ORPHA:35107 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:609029 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Optic atrophy, Lethargy |
ORPHA:137675 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Ataxia, Hydrocephalus, Genu valgum, Chronic myelogenous leuk... |
ORPHA:636 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg... |
ORPHA:235 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Inability to walk, Cranial nerve c... |
ORPHA:2356 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Chorioretin... |
OMIM:305600 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Pancytopenia, Ataxia, Genu valgum, Hepatosplenome... |
ORPHA:309282 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Absent gallbladder, Rocker bottom ... |
ORPHA:163979 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Plantar pits, Polydactyly, Retinopathy, Ventriculomegaly |
ORPHA:77301 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, Hydrocephalus, Abnormality of the ankle, Dandy-Walker m... |
ORPHA:96170 |
Basal Cell Nevus Syndrome 2 |
|
Plantar pits, Hydrocephalus, Neurofibroma |
OMIM:620343 |
Aicardi Syndrome |
|
Retinal detachment, Spina bifida, Proximal placement of thumb, Missing ribs, Chorioretinal lacuna... |
OMIM:304050 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insufficiency, Cholestasis, Renal cyst... |
OMIM:261515 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Occipital encephalocele, Ataxia, Chorioretinal atrophy, Vi... |
OMIM:267750 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abno... |
ORPHA:580 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Brachydactyly, Dandy-Walker malformation, Drumstick terminal phalanges |
OMIM:612938 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads |
OMIM:612863 |
Lymphangioleiomyomatosis |
|
Retinal hamartoma, Hydrocephalus, Abnormality of the lymphatic system, Optic atrophy, Lymphadenop... |
ORPHA:538 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:85201 |
Marshall-Smith Syndrome |
|
Microretrognathia, Hallux valgus, Optic nerve hypoplasia, Bullet-shaped middle phalanges of the h... |
OMIM:602535 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Optic atrophy |
OMIM:609037 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Talipes equino... |
ORPHA:250989 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Hydrocephalus, Optic atrophy, Genu valgum, Palmoplantar keratoderma |
ORPHA:1340 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decre... |
OMIM:133540 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Hydrocephalus,... |
OMIM:227646 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal foot morphology, Hydrocephalus, Abnormality of the spleen, A... |
ORPHA:1666 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Ab... |
ORPHA:58 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia |
ORPHA:31 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Congenital hip dislocation, Bowing of the long bones |
OMIM:612940 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Optic atrophy, Ataxia, Abnormal cerebrospinal fluid morphology |
ORPHA:314404 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Dandy-Walk... |
OMIM:606519 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Talipes equinovarus, Aprosencephaly, Retinal dysplasia, Micrognathia |
OMIM:601374 |
7Q11.23 Microduplication Syndrome |
|
Pes planus, Micrognathia, Long fingers, Hydrocephalus, Unsteady gait, Dysmetria, Abnormal optic d... |
ORPHA:96121 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Preaxial hand polydactyly, Hydrocephalus, Delayed epiphyseal ossif... |
OMIM:101200 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... |
OMIM:266920 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... |
OMIM:276700 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... |
OMIM:618454 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki... |
OMIM:249100 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Short metacarpal, Abnormal metacarpal epiphysis morphology, Arachnodactyly, Abnor... |
ORPHA:95699 |
Charge Syndrome |
|
Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Micrognathia, Absent radius, Short ... |
OMIM:214800 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Metatarsus adductus, Hydrocephalus, Me... |
OMIM:182212 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Micrognathia, Hydrocephalus, Osteopathi... |
OMIM:300373 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Hepatomegaly, Arachnodactyly, Optic atro... |
ORPHA:394 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cl... |
ORPHA:264450 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, E... |
ORPHA:401973 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, P... |
OMIM:264480 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Hydrocephalus, Micrognathia |
ORPHA:2409 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Micrognathia |
OMIM:112240 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... |
OMIM:618460 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... |
ORPHA:464311 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Pes planus, Lateral ventricular asymmetry, Hyperextensibility of the finger joints, Arachnodactyl... |
OMIM:616914 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... |
OMIM:107480 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:2538 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, Decreased testi... |
ORPHA:261349 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thum... |
ORPHA:84 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Micrognathia, Abnorma... |
ORPHA:2050 |
Desmosterolosis |
|
Ventriculomegaly, Rhizomelia, Micrognathia, Hydrocephalus, Abnormal circulating cholesterol conce... |
OMIM:602398 |
Wolfram Syndrome |
|
Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Optic atrophy, Abnormal autonomic nervo... |
ORPHA:3463 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality... |
ORPHA:369837 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hydrocephalus, Narrow iliac wing |
OMIM:616294 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Cryp... |
OMIM:229850 |
Osteogenesis Imperfecta |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, A... |
ORPHA:666 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Hypothyro... |
ORPHA:116 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Pes cavus |
OMIM:231005 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Micrognathia |
OMIM:243440 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Breast hyp... |
ORPHA:464306 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... |
ORPHA:2059 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Optic neuropathy, Broad ischia, Optic atrophy, Diaphyseal dysplasia, Short... |
OMIM:619727 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:219730 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly, Ataxia |
ORPHA:65285 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Aganglionic megacolon, Tapered finger, Hydrocephalus, Talipes equinovarus, Ven... |
OMIM:613603 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Optic nerve compression |
ORPHA:91350 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Micrognathia, Lymphopenia, Anemia |
ORPHA:2268 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Tibial pseudarthrosis, Genu valgu... |
OMIM:162200 |
Neurooculorenal Syndrome |
|
Short hallux, Micrognathia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Hydrocephalus, Re... |
OMIM:620305 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Optic atrophy, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Micr... |
ORPHA:955 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Broad hallux, Micrognathia, Hydrocephalus, Split hand, Radial deviation of finger, Ca... |
OMIM:305450 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Hydrocephalus, Plantar pits, Irregular ossification of hand... |
OMIM:109400 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:613150 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Absent Achilles reflex, Neural tube defect, Dif... |
ORPHA:268810 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Tapered finger, Micrognathia, Hydrocephalus, Optic disc ... |
ORPHA:261337 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Missing ribs |
OMIM:613686 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosi... |
OMIM:175780 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Micrognathia, Hy... |
ORPHA:2556 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple |
ORPHA:1001 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Hydrocephalus, Colpocephaly |
OMIM:309801 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Biliary cirrhosis, Renal cyst, Chol... |
OMIM:613610 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Micrognathia, Hydrocephalus, Hypophosphatemia, Long hallux,... |
OMIM:259775 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Absent frontal sinuses, Asplenia |
OMIM:244400 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Bilateral talipes e... |
OMIM:614083 |
Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma |
ORPHA:220460 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Ataxia, Hydrocephalus, Neurofibroma, Jaundice, Genu valgum, Decreased CSF 5-met... |
OMIM:619475 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly ... |
ORPHA:2462 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst |
OMIM:617260 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Micrognathia |
OMIM:601186 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Multiple renal cysts |
ORPHA:1190 |
Peters-Plus Syndrome |
|
Short palm, Syndactyly, Short metacarpal, Rhizomelia, Bilobate gallbladder, Proximal placement of... |
OMIM:261540 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Hypertriglyceridemia, Optic disc hypoplasia, Ataxia, Camptodactyly of fi... |
ORPHA:3455 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Chorioretini... |
ORPHA:509 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pes planus, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus, Calcane... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Pes planus, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus, Calcane... |
ORPHA:363958 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Facial palsy, Aplastic clavicle, Abnormal metacarpal morphology, Hydrocephalus... |
ORPHA:2658 |
Pineoblastoma |
|
Papilledema, Retinoblastoma, Lethargy |
ORPHA:251909 |
Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Absent gallbladder, Hypoplastic scapulae, Abnormal chorioret... |
ORPHA:3310 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Aqueductal stenosis, Asplenia, M... |
OMIM:306955 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Meningioma |
|
Papilledema, Ataxia, Facial palsy, Hydrocephalus, Neurofibroma, Difficulty walking |
ORPHA:2495 |
Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele, Micrognathia |
OMIM:130720 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Cryptor... |
ORPHA:534 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Sta... |
OMIM:118450 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas |
OMIM:616975 |
Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Postaxial hand polydactyly |
OMIM:610829 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Optic disc pallor, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus,... |
OMIM:607872 |
Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly, Micrognathia |
OMIM:617667 |
Aymé-Gripp Syndrome |
|
Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Camptodactyly, Clinodac... |
ORPHA:1272 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Cryptorch... |
ORPHA:1606 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Lymphopenia, Hypocalcemia, Micrognathia |
ORPHA:2306 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Micrognathia |
ORPHA:1064 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Pseudoepiphyses of the metacarpals, Short hallux, Micrognathia, Metatarsus addu... |
OMIM:194190 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... |
ORPHA:495875 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Hypospadias, Streak ovary, Abnormality of the ureter, Nephrolithiasis, Renal cy... |
ORPHA:798 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Hydrocephalus, Short toe, Optic atrophy, Sh... |
ORPHA:709 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Hydrocephalus, Congenital hip dislocation |
OMIM:104350 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Pes planus, Septo-optic dysplasia, Short fifth metatarsal, Short fou... |
OMIM:619841 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Hypertriglyceridemia, Short femur, Micrognathia, Hypoplastic ilia, Long ... |
OMIM:264090 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Absence of the sacrum, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus t... |
OMIM:600145 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Ataxia, Abnormal thumb morphology, Unsteady gait, Optic atrophy, Deviation of the 2nd finger, Abs... |
ORPHA:67036 |
Kinsship Syndrome |
|
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... |
OMIM:619297 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Aqueductal stenosis, Knee dislocation, Hypoalbuminemia, Hepatic fi... |
OMIM:619534 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Syndactyly, Lateral ventricle dilatation, Polydactyly |
OMIM:619869 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Hypothyroidism |
ORPHA:1556 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... |
ORPHA:818 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Hypoglycemia, Micrognathia, Hydrocephalus, Achilles tend... |
OMIM:218040 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Talipes, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly |
ORPHA:2166 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External... |
ORPHA:97360 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia... |
ORPHA:1052 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Pes planus, Arachnodactyly, Neonatal hypoglycemia, Gait ataxia, Diff... |
ORPHA:457359 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Kabuki Syndrome |
|
Hydrocephalus, Small hand, Hip dislocation, Short middle phalanx of finger, Short 5th finger, Ven... |
ORPHA:2322 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Pes planus, Arachnodactyly, Gait ataxia, Large hands, Long foot, Ven... |
OMIM:617011 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hepatomegaly, Short greater sciatic not... |
OMIM:312870 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Long foot, Micrognathia, Schwannoma, Hydrocephalus, Abnormal tibia morpholo... |
ORPHA:363700 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Pes planus, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... |
ORPHA:744 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, Hydr... |
ORPHA:2308 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... |
ORPHA:500095 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ... |
ORPHA:2750 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe... |
ORPHA:1507 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Renal h... |
ORPHA:93271 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Asplenia, Hydrocephalus, Hypoplastic pelvis, Tetraamelia |
OMIM:273395 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorc... |
ORPHA:1596 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re... |
ORPHA:2052 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Myelomeningoce... |
OMIM:219000 |
Williams Syndrome |
|
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi... |
ORPHA:904 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Alobar Holoprosencephaly |
|
Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom... |
ORPHA:220386 |
Trisomy 10P |
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Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula |
ORPHA:171929 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus, Abnormality of the lymphatic system |
ORPHA:137667 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg... |
OMIM:208150 |
Hypoplasminogenemia |
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Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation |
ORPHA:722 |
Cerebrocostomandibular Syndrome |
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Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Hydrocephalus, Neonatal hypoglycemia |
OMIM:261740 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Hydrocephalus, Gait disturbance, Narrow iliac wing, Anemia |
ORPHA:3042 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
C Syndrome |
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Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... |
ORPHA:1308 |
Spondylocarpotarsal Synostosis Syndrome |
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Renal cyst |
OMIM:272460 |
Split Cord Malformation |
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Pes planus, Lower limb asymmetry, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, ... |
ORPHA:573278 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Anencephaly |
OMIM:313850 |
Loeys-Dietz Syndrome 2 |
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Pes planus, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,... |
OMIM:610168 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus |
ORPHA:1780 |
Loeys-Dietz Syndrome 1 |
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Arachnodactyly, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Cam... |
OMIM:609192 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Congenital hip dislocation, Micrognathia, Autoimmune thrombocytopenia, Hydrocep... |
OMIM:147920 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... |
OMIM:606170 |
Fontaine Progeroid Syndrome |
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Syndactyly, Micrognathia, Hydrocephalus, Absent distal phalanges, Short distal phalanx of finger |
OMIM:612289 |
Cornelia De Lange Syndrome |
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Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... |
ORPHA:199 |
Oeis Complex |
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11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Hydrocepha... |
OMIM:258040 |
Coffin-Siris Syndrome 12 |
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Facial palsy, Micrognathia, Hip subluxation, Short thumb, Slender finger, Noncommunicating hydroc... |
OMIM:619325 |
Cerebrocostomandibular Syndrome |
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Multicystic kidney dysplasia |
ORPHA:1393 |
Branchiooculofacial Syndrome |
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Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of int... |
OMIM:113620 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... |
ORPHA:261537 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... |
ORPHA:261552 |
Pmm2-Cdg |
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Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, El... |
ORPHA:79318 |
Pallister-Killian Syndrome |
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Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m... |
OMIM:601803 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Micrognathia, Hydrocephalus, Partial duplication of thumb phalanx, Genu ... |
OMIM:164210 |