Infantile Refsum Disease |
|
Failure to thrive, Constriction of peripheral visual field, Ataxia, Facial palsy, Short stature, ... |
ORPHA:772 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Inability to walk, Sensorineural hear... |
ORPHA:2596 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:618511 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Sensorineural hearing impairment, Op... |
OMIM:619473 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Dystonia, Ataxia, Incoordination, Visual loss, Sensorineural hearing impairment, Optic... |
OMIM:601338 |
Arts Syndrome |
|
Ataxia, Progressive muscle weakness, Visual loss, Optic atrophy, Tetraplegia, Growth delay, Heari... |
OMIM:301835 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... |
OMIM:157640 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... |
ORPHA:98897 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Abnormal peripheral nervous system synaptic transmission, Poor h... |
ORPHA:353327 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal ... |
ORPHA:216873 |
Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Ataxia, Short stature, Constriction of ... |
ORPHA:644 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Generalized amyotrophy, Loss of ambulation, Scapular winging, Facial palsy, Progressive proximal ... |
OMIM:167320 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis, Generalized amyotrophy, Abnormal lower motor neuron morphology, Bulbar palsy, Parkinsoni... |
ORPHA:275872 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Blindness, Ataxia, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary r... |
OMIM:610951 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma... |
OMIM:236792 |
Sandhoff Disease |
|
Blindness, Ataxia, Cherry red spot of the macula, Failure to thrive, Muscle weakness, Hearing imp... |
ORPHA:796 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... |
OMIM:608627 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atr... |
OMIM:256730 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Ataxia, Proximal muscle weakness, Retinal pigment epithelial mottling, Myopathy, Corti... |
OMIM:551500 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Cerebral visual impairment, Inability to walk, Myoclonus, Difficulty walking, Dystonia, L... |
OMIM:617829 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Premature ovarian insufficiency, Parkinsonism, Proximal mus... |
OMIM:609286 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Visual loss, Unsteady gait, Opti... |
OMIM:256600 |
Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Lethargy, Failure to thrive, Cerebral cortical atrophy, Visual impairment |
ORPHA:622 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Apraxia, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Ri... |
OMIM:607136 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity... |
ORPHA:845 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Short stature, Hypergonadotropic hypogonadis... |
OMIM:248800 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... |
ORPHA:178400 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Distal muscle weakness, Paralysis, Distal sensory impairment, Lower-limb... |
OMIM:613710 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor,... |
ORPHA:97229 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity... |
OMIM:617065 |
Behr Syndrome |
|
Cerebellar atrophy, Blindness, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic ... |
OMIM:210000 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Pro... |
OMIM:607426 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Prog... |
OMIM:620285 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Tremor, Cryptorchidism, Sens... |
OMIM:300957 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Blindness, Cerebral atrophy, Growth delay, Dystonia, Spasticity, Hearing impa... |
OMIM:617899 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Loss of ambulation, Ataxia, External ophthalmo... |
ORPHA:3208 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Tibialis anterior muscle atrophy, Central scotoma, Impaired distal vibrati... |
OMIM:615035 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu... |
OMIM:304700 |
Desminopathy |
|
Neck flexor weakness, Fatigable weakness of bulbar muscles, Respiratory insufficiency due to musc... |
ORPHA:98909 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr... |
OMIM:165300 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Depression, Lower limb hypertonia, ... |
OMIM:618369 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Optic atrophy, Spasticity, Severely reduced visual acuity, Hearing impairment |
OMIM:309555 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Progressive sensorineural he... |
OMIM:303110 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... |
ORPHA:254875 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Red-green dyschromatopsia, Ophthalmoplegia, Central ... |
OMIM:125250 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... |
OMIM:204200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia... |
OMIM:213200 |
Methylmalonic Acidemia With Homocystinuria |
|
Amblyopia, Gait disturbance, Lethargy, Failure to thrive, Retinopathy |
ORPHA:26 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Poor head control, Blindness, Ataxia, Increased neuronal autofluorescent lipo... |
ORPHA:79263 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Hypoplasia of penis, Abnormal retinal vascular mo... |
ORPHA:791 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Flexi... |
OMIM:609033 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, External genital hypoplasia, Sensorineural hearing impairment, Retinitis pigmentosa in... |
OMIM:268010 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:620249 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Severe Canavan Disease |
|
Poor head control, Blindness, Inability to walk, Babinski sign, Optic atrophy, Decerebrate rigidi... |
ORPHA:314911 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Blindness, Ataxia, Short stature, Sensorineural hearing impairment, Ophthalmo... |
ORPHA:254913 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemipare... |
ORPHA:96 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Blind-spot enlargment, Sensorineural hearing impairment, Optic atrophy, Reduce... |
OMIM:614296 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Upper limb muscle weakness, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sens... |
ORPHA:206443 |
Machado-Joseph Disease |
|
Gliosis, Impaired vibratory sensation, Ataxia, Parkinsonism, External ophthalmoplegia, Distal amy... |
OMIM:109150 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral visual impairment, Inability to walk, Cerebral atrophy, Choreoathetosis, Hyperkinetic mo... |
OMIM:618497 |
Susac Syndrome |
|
Somatic sensory dysfunction, Visual loss, Vertigo, Sensorineural hearing impairment, Diplopia, Up... |
ORPHA:838 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... |
OMIM:620166 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking, Knee flexion contracture |
OMIM:616330 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness, Spastic paraplegia, Lower limb muscle weakness, Hearing impairment |
OMIM:302700 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Centrally nucleated skeletal ... |
OMIM:619518 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Depression, Bradyki... |
OMIM:221820 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Ragged-red muscle fibers, Muscle fiber atrophy, Scapular winging, Ataxia, F... |
ORPHA:254886 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Proximal muscle weakness, Axonal degeneration, Hand tremor, Distal sensory impairment, Degenerati... |
OMIM:604484 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Depression, Gliosis, Neuronal lo... |
OMIM:143100 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Optic Atrophy 1 |
|
Progressive external ophthalmoplegia, Ataxia, Proximal muscle weakness, Central scotoma, Red-gree... |
OMIM:165500 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Short stature, Congenital diaphragmatic hernia, Absent pubertal growt... |
OMIM:615919 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Generalized dystonia, Frequent falls, Inability to walk, Spasticity... |
ORPHA:216866 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Cho... |
OMIM:238970 |
Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Ophthalmoplegia, Optic atrophy, Pigmentary retinopathy,... |
OMIM:256000 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Blindness, Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Secondary amenorrhea, P... |
OMIM:603896 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, U... |
ORPHA:1435 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Myopathy, Hypertonia, Dystonia, Lethargy, Failure to thrive, Intrauterine growth r... |
ORPHA:26792 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, Di... |
ORPHA:98913 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Respiratory insufficiency due to muscle we... |
ORPHA:98902 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... |
OMIM:605355 |
Usher Syndrome Type 1 |
|
Ataxia, Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Depression, Abnormal ... |
ORPHA:231169 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Upper motor neuron dysfunction, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy,... |
ORPHA:204 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Cerebral visual impairment, Tremor, Preling... |
ORPHA:52368 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy |
OMIM:618224 |
Central Neurocytoma |
|
Pain insensitivity, Ataxia, Babinski sign, Depression, Abnormality of vision, Paresthesia, Lethar... |
ORPHA:73256 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Poor head control, Generalized muscle weakness, Prolonged miniature endplate currents, Loss of am... |
OMIM:616321 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Ataxia, Ophthalmoplegia, Babinski sign, Optic atrophy, Growth delay, Brain at... |
OMIM:618226 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Pulsatile tinnitus, Scintillating scotoma, Vertigo, Visual loss, Diplopia, Obesity, ... |
ORPHA:238624 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Ba... |
OMIM:615838 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Peroxisome Biogenesis Disorder 11B |
|
Visual loss, Progressive muscle weakness, Muscle weakness, Hearing impairment |
OMIM:614885 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
Spastic Ataxia 9, Autosomal Recessive |
|
Distal muscle weakness, Ataxia, Premature ovarian insufficiency, Impaired distal vibration sensat... |
OMIM:618438 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain... |
OMIM:618228 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Cerebral atrophy, Tetraplegia, Growth delay, Hypertonia, Lethargy, Failure to thrive |
OMIM:274270 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Short stature, Visual loss, Sensorineural hearing impairment, Optic atrophy, P... |
ORPHA:49827 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Flexion contracture, Impaired proprioception, Dysmetria, Opto-chiasmatic atrophy, ... |
OMIM:615491 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... |
OMIM:603034 |
Retinitis Pigmentosa 59 |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Sensorineural hearing impairment, Ny... |
OMIM:613861 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Usher Syndrome Type 3 |
|
Ataxia, Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Depression, Abnormal ... |
ORPHA:231183 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Poor head control, Blindness, Spastic tetraparesis, Visual loss, Poor c... |
ORPHA:391428 |
Sarcosinemia |
|
Peroneal muscle weakness, Ataxia, Optic atrophy, Tetraparesis, Infantile sensorineural hearing im... |
ORPHA:3129 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Ataxia, Ophthalmoplegia, Myoclonus, Brain atrophy, Lethargy, Spasticity |
OMIM:618225 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... |
OMIM:611588 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Babinski sign, Optic atr... |
ORPHA:98890 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... |
ORPHA:98934 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Impaire... |
OMIM:601455 |
Cln3 Disease |
|
Cerebellar atrophy, Blindness, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, ... |
ORPHA:228346 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Lower limb spasticity, Cerebral visual impairment, Inability to walk, Sensorineural hearing impai... |
OMIM:618768 |
Leber Congenital Amaurosis 1 |
|
Blindness, Fundus atrophy, Sensorineural hearing impairment, Nyctalopia, Reduced visual acuity, O... |
OMIM:204000 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Reduce... |
ORPHA:508093 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, ... |
ORPHA:280210 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Progressive external ophthalmoplegia, Constriction of periph... |
ORPHA:1215 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... |
OMIM:600462 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flexion contracture of finger, Small for gestational age, Fatiguable weakness of proximal limb mu... |
ORPHA:319332 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormal vestibular function, Myopia, Ataxia, Blindness, Sen... |
ORPHA:886 |
Cach Syndrome |
|
Flexion contracture, Dysmetria, Premature ovarian insufficiency, Secondary amenorrhea, Gonadal dy... |
ORPHA:135 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... |
ORPHA:98896 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Calf muscle pseudohypertrophy, Ataxia, Neck flexor weakness, Short ... |
ORPHA:96180 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... |
OMIM:605809 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Myopia, Multiple joint contractures, Facial palsy, Reduc... |
ORPHA:370968 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Blindness, Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Flexion cont... |
ORPHA:79243 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Cerebral visual impairment... |
OMIM:616239 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia, Lethargy, Failure to thrive |
OMIM:250620 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Multifocal Motor Neuropathy |
|
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... |
ORPHA:641 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Short stature, Clonus, Cerebral visual impairment, Cry... |
OMIM:619847 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro... |
OMIM:610542 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Optic atrophy, Choreoathetosis, Ga... |
ORPHA:702 |
Hsd10 Disease |
|
Ataxia, Tremor, Postnatal growth retardation, Rigidity, Optic atrophy, Choreoathetosis, Frontotem... |
ORPHA:391417 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Truncal titubation, Inability to walk, Chorea, External ophthalmoplegia, Abnormal p... |
OMIM:607483 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Generalized hyp... |
OMIM:254210 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Tremor, Overweight, Depress... |
ORPHA:457240 |
Hemimegalencephaly |
|
Optic atrophy, Hemiparesis, Hemianopia, Gliosis, Myoclonus, Oculomotor nerve palsy, Abnormal neur... |
ORPHA:99802 |
Cyclic Vomiting Syndrome |
|
Ataxia, Growth delay, Lethargy, Muscle weakness, Hearing impairment |
OMIM:500007 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Ophthalmoplegia, Bradykinesia, Lethargy |
OMIM:618683 |
Optic Pathway Glioma |
|
Papilledema, Blindness, Precocious puberty, Visual loss, Vertigo, Ophthalmoplegia, Optic atrophy,... |
ORPHA:2086 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidis... |
OMIM:619310 |
Infantile Krabbe Disease |
|
Diffuse cerebral atrophy, Opisthotonus, Photophobia, Decerebrate rigidity, Cherry red spot of the... |
ORPHA:206436 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Postural tremor, Ataxia, Premature ovarian insu... |
ORPHA:79239 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction ve... |
ORPHA:98755 |
Congenital Disorder Of Glycosylation, Type In |
|
Short stature, Ataxia, Sensorineural hearing impairment, Reduced visual acuity, Cerebral atrophy,... |
OMIM:612015 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Depression, Apathy, Dystonia, Inertia, Cerebral cort... |
OMIM:606438 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... |
ORPHA:300605 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Progressive external ophthalmoplegia, Ataxia, Cachexia, Ragged-red muscle fibers, Generalized mus... |
OMIM:613662 |
Huntington Disease |
|
Caudate atrophy, Clonus, Chorea, Decreased body mass index, Clumsiness, Depression, Gait disturba... |
ORPHA:399 |
Adrenoleukodystrophy |
|
Bulbar palsy, Blindness, Incoordination, Visual loss, Paraparesis, Spastic paraplegia, Slurred sp... |
OMIM:300100 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy, Short stature |
ORPHA:1513 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Reduced visual acuit... |
ORPHA:466794 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Reduced ... |
OMIM:611302 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Babinski sign, Reduced visual acuity, Distal sensory impairment, Gait at... |
ORPHA:101111 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Prolonged miniature endplate currents, Axial muscl... |
ORPHA:98915 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Respiratory ... |
ORPHA:329336 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Blindness, Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocere... |
ORPHA:95433 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Flexion contracture, Optic atrophy, Hypertonia, A... |
ORPHA:141 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... |
ORPHA:225154 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Blindness, Small for gestational age, Retinal arteriolar tortuosit... |
ORPHA:90050 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebral visual impairment, Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait at... |
ORPHA:254892 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age, Nyctalopia |
OMIM:300076 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity, Abnormality of extrapyramida... |
OMIM:258501 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,... |
ORPHA:157850 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Blindness, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, O... |
ORPHA:35069 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopia, Chorea, Progressive proximal muscle weakness, Cerebral atrophy, Myopathy, Hyperkinetic mo... |
ORPHA:369847 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance, Blindness |
OMIM:607674 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Proximal muscle weakness, Fatigable weakness, Myopathy... |
ORPHA:42 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Severe short stature, Ataxia, Amblyopia, Visual loss, Sensorineural hearing i... |
OMIM:617951 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... |
OMIM:312170 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Myopia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation test,... |
ORPHA:3363 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Clonus, Ragged-red muscle fibers, Abnormal pyramidal sign, Dysmetria, Ax... |
OMIM:616479 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Respiratory insu... |
OMIM:615512 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased nerve con... |
OMIM:245200 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dep... |
ORPHA:683 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Ataxia, Truncal titubatio... |
ORPHA:88628 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Impaired distal vibrat... |
OMIM:616680 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:79283 |
Developmental And Epileptic Encephalopathy 63 |
|
Poor head control, Cerebral palsy, Inability to walk, Conductive hearing impairment, Cerebral cor... |
OMIM:617976 |
Alpers-Huttenlocher Syndrome |
|
Blindness, Ataxia, Paraparesis, Choreoathetosis, Abnormality of vision, Myoclonus, Progressive sp... |
ORPHA:726 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Poor head control, Lower limb spasticity, Elbow cont... |
OMIM:611523 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Poor head control, Ataxia, Optic atrophy, Spasticity, Abnormality of extrapyramidal motor functio... |
OMIM:614299 |
Peroxisome Biogenesis Disorder 9B |
|
Distal muscle weakness, Ataxia, Constriction of peripheral visual field, Sensorineural hearing im... |
OMIM:614879 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Falls, Cong... |
OMIM:613341 |
Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment, Nyctalopia, Reduced visual acuity... |
OMIM:276902 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Scotoma, Slurred speech, Ankle clonus, Lethargy, Spasticity, Failure to thrive |
ORPHA:247525 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Scotoma, Tremor, Cerebellar gliosis, Flexion contracture, Optic atrop... |
OMIM:616505 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Growth delay, Dystonia, Lethargy |
ORPHA:289916 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:204100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Diminished motivation, Tremor, Dysmetria, Gait ataxia, Ataxia, Depressio... |
OMIM:615157 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Impaired proprioception, ... |
ORPHA:95 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photoph... |
OMIM:616732 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... |
OMIM:616881 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... |
OMIM:128100 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Usher Syndrome, Type Iid |
|
Abnormal vestibular function, Nyctalopia, Rod-cone dystrophy, Hearing impairment |
OMIM:611383 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... |
OMIM:612936 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Poor head control, Blindness, Ataxia, Optic neuropathy, Sensorineural hearing ... |
ORPHA:2609 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Diplopia, Weight loss, Bradykinesia, Depression... |
ORPHA:411602 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Short stature, Cachexia, Decreased nerve conduction velocity, Se... |
ORPHA:1933 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Poor motor c... |
ORPHA:79264 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Diplopia, Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor functi... |
OMIM:604218 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Blindness, Ataxia, Congenital sensorineural hearing im... |
ORPHA:1187 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Optic atrophy, Opisthotonus, Congenital contracture, Gliosis, Extrapyramidal dyskinesia, ... |
OMIM:277470 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Growth delay, General... |
OMIM:613561 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Somatic sensory dysfunction, Blindness, Ataxia, Visu... |
ORPHA:94147 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
Giant Cell Arteritis |
|
Amaurosis fugax, Ataxia, Visual loss, Vertigo, Diplopia, Optic atrophy, Weight loss, Ophthalmopar... |
ORPHA:397 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Gait dist... |
ORPHA:765 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness, Cerebral atrophy, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Fail... |
OMIM:236270 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Ataxia, Dystonia |
OMIM:246900 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Abnormal vestibular function, Drusen, Nyctalopia, Prelingual sensorineural hea... |
OMIM:618632 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Ophthalmoplegia, Spastic tetraplegia, Cerebral atrophy, Gai... |
OMIM:618321 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Myopia, Retinal thinning, Short stature, Asteroid hyalosis, Conductive hearing impairment |
OMIM:132450 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Myopia, Abnormal anterior horn cell morphology, Paucity of anterior horn... |
OMIM:611890 |
Insulinoma |
|
Tremor, Hearing abnormality, Generalized muscle weakness, Primary hyperparathyroidism, Increased ... |
ORPHA:97279 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac... |
OMIM:617282 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia |
OMIM:233910 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Lower limb spasticity, Ata... |
OMIM:617193 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Small for gestational age, Crypt... |
OMIM:214150 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Conduct... |
ORPHA:90646 |
Dk1-Cdg |
|
Progressive muscle weakness, Failure to thrive, Short stature, Visual impairment |
ORPHA:91131 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Choreoathetosis, Dystonia, Lethargy, Failure to thrive |
ORPHA:79312 |
Medulloblastoma |
|
Total ophthalmoplegia, Ataxia, Vertigo, Diplopia, Dysmetria, Progressive cerebellar ataxia, Bilat... |
ORPHA:616 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Bardet-Biedl Syndrome 16 |
|
Short stature, External genital hypoplasia, Obesity, Reduced visual acuity, Hypogonadism, Recurre... |
OMIM:615993 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Myopia, Blindness, Ataxia, Corpus callosum atrophy, Inability to walk, Visual... |
ORPHA:168491 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness, Ataxia, Ophthalmoparesis, Pigmentary retinopathy, Myoclonus, Failure to thrive, Hearin... |
OMIM:560000 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Short... |
OMIM:312080 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Babinski sign, Depression, Pseudobulbar paralysis, Impotence, Gl... |
OMIM:169500 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Gait at... |
ORPHA:309256 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Moderately short stature, Central ... |
ORPHA:506353 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Blindness... |
OMIM:268800 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Cerebral visual impairment, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, ... |
OMIM:614498 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia, Blindness |
OMIM:610623 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Poor head control, Ataxia, Blindn... |
OMIM:252010 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Depression, Distal a... |
ORPHA:909 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Reduced visual acuity, Lethargy, Spasticity, Failure to thrive |
ORPHA:2394 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Myopia, Ataxia, Cachexia, Impaired pain sensation, Progressive sensorine... |
ORPHA:2047 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Nyctalopia, Reduced visual acuity, Micropenis, Truncal obesity, Spasticity, Ch... |
OMIM:610156 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Blindness, Retinal dystrophy, Ataxia, Tremor, Rhabdomyolysis, Myopathy, Muscle weakness |
ORPHA:713 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Abruzzo-Erickson Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Coronal hypospadias... |
ORPHA:921 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... |
OMIM:614959 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Abnormal optic ner... |
ORPHA:506 |
Myasthenic Syndrome, Congenital, 10 |
|
Waddling gait, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Proxi... |
OMIM:254300 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity,... |
ORPHA:309271 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Ataxia, Limb joint contracture, Sho... |
OMIM:301072 |
Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy |
ORPHA:27 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Distal muscle weakness, Small for gestational age, Severe short stature, Hyp... |
OMIM:275400 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Poor head control, Blindness, Spastic tetraparesis, Paralysis, Chor... |
OMIM:272750 |
Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Cherry red spot of the macula, Ataxia, Short stature, Retinopathy o... |
ORPHA:354 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness, Spasticity |
ORPHA:85336 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Poor head control, Ataxia, Small for gestational age, Failure to thrive ... |
ORPHA:59 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis |
OMIM:613002 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Abnormality of p... |
ORPHA:1947 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Impaired vibratory sensation, Conductive hearing impairment, Sensorineural hearing impairment, Cl... |
OMIM:610738 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Tremor, Cranial nerve compression, Paroxysmal verti... |
ORPHA:94080 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Nyctalopia, Flexion contracture, Type 2 muscl... |
OMIM:160565 |
Eales Disease |
|
Optic disc pallor, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Nyctalopia, Obesity, Hypogonadism, Rod-cone dystroph... |
OMIM:615982 |
Van Den Bosch Syndrome |
|
Choroideremia, Scapular winging, Unfavorable response of muscle weakness to acetylcholine esteras... |
ORPHA:3417 |
Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Abnormal optic nerve morphology, Wrist drop, Foot dorsiflexor weakness, Facial palsy... |
ORPHA:637 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Re... |
OMIM:608703 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Nyctalopia, Limb muscle we... |
OMIM:266500 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Usher Syndrome Type 2 |
|
Myopia, Ataxia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormality of the inner ... |
ORPHA:231178 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Sen... |
ORPHA:773 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Blindness, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign,... |
ORPHA:139396 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness, Abnormal pinna morphology, Small for gestational age, Optic atrophy, Contractures of t... |
ORPHA:3078 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Distal muscle weakness, Sh... |
OMIM:256810 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Reduced visual acuity, Pho... |
OMIM:617879 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... |
ORPHA:414 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Generalized muscle weakness, Increased body weight |
ORPHA:276608 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, ... |
ORPHA:98771 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Clumsin... |
ORPHA:309263 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Babinski sign, Abn... |
OMIM:248500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Short stature, Moderately reduced visual acuity, Isosexual pre... |
ORPHA:2788 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Cerebral visual impairmen... |
OMIM:610131 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... |
OMIM:616394 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Failure to thrive in infancy, Short stature, Decreased response to growth hormo... |
OMIM:601808 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypertonia, Gliosis, Myoclonus, Spasticity |
OMIM:225753 |
Optic Atrophy 11 |
|
Myopia, Ataxia, Optic nerve hypoplasia, Short stature, Amblyopia, Fiber type grouping, Macrotia, ... |
OMIM:617302 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sens... |
ORPHA:98768 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Brain atrophy, Cerebral atrophy |
ORPHA:85179 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia, Reduced visual acuity, Photophobia |
OMIM:618970 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Madras Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Sensorineural hearing impairment, Babinski si... |
ORPHA:137867 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Photophobia, Progressive gait ataxia, Retinal arteriolar constriction, C... |
ORPHA:191 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Bipolar affective disorder, Diastasis recti, Decreased response to growt... |
ORPHA:488632 |
Canavan Disease |
|
Blindness, Optic atrophy, Abnormal pyramidal sign, Opisthotonus, Brain atrophy, Visual impairment... |
OMIM:271900 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Short stature, Sensorineural hearing impairment, Progressive proximal muscle weakness, Ob... |
ORPHA:98907 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Abnormal pyramidal sign, Hypertonia, Otitis media, Thickened helices, Conduc... |
ORPHA:581 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Photophobia, Truncal obesity, Progressive night blindness, Mi... |
ORPHA:75858 |
Christianson Syndrome |
|
Cerebellar atrophy, Decreased muscle mass, Cachexia, Macrotia, Ophthalmoplegia, Truncal ataxia, G... |
ORPHA:85278 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Gait disturbance, Myoclonus, Gliosis, Apraxia, ... |
OMIM:221770 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Head titubation, Gowers sign, Generalized muscle weakness, Reduced visual acuit... |
OMIM:620208 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
Biotinidase Deficiency |
|
Ataxia, Scotoma, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Spastic parap... |
ORPHA:79241 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Ataxia, Clitoral hypertrophy, Abnormal m... |
ORPHA:543470 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Ramon Syndrome |
|
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairm... |
ORPHA:3019 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Increased variability in muscle fiber diameter, Cerebral atrophy, Myopathy, G... |
OMIM:604377 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Optic disc pallor, Exaggerated startle response, Multiple joint con... |
ORPHA:320406 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Ankle flexion contracture, Rhabdomyolysis, Gait imbalance, Lethargy, Muscle weakness |
OMIM:618120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Myopia, Facial palsy, Proximal muscle weakness, Inability to walk, Cryptorchidism, Flexion contra... |
OMIM:613156 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Arthrogrypo... |
OMIM:615095 |
Supranuclear Palsy, Progressive, 1 |
|
Tremor, Granulovacuolar degeneration, Photophobia, Gliosis, Limb dystonia, Eyelid apraxia, Parkin... |
OMIM:601104 |
Smith-Magenis Syndrome |
|
Retinal detachment, Myopia, Failure to thrive in infancy, Short stature, Impaired pain sensation,... |
ORPHA:819 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Small thenar eminence, Small hypothenar eminence |
ORPHA:3246 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Retinopathy, Gliosis |
OMIM:615119 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Lower limb hypertonia, Brain atrophy, Lethargy, Intrauterine growth... |
ORPHA:2169 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Sensorineural hearing impairment, Optic atrophy, Hypermetropia, Low-set ears, Conductive hearing ... |
OMIM:618672 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Short stature, Dysmenorrhea, Postnatal growth retardation, Limb-girdle m... |
ORPHA:79240 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Progressive distal muscle weakness, Rhabdomyoly... |
ORPHA:746 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Constriction of peripheral visual field, Short stature, Incoordination, Patchy ... |
ORPHA:436245 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal visual field test, Ataxia, Parkinsonism, Paralysis, Paraparesis, Vertigo, Diplopia, Redu... |
ORPHA:140989 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials, Gliosis, Reduced visual acuity |
ORPHA:357225 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... |
OMIM:614186 |
Ogden Syndrome |
|
Torticollis, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Hypertonia, Shufflin... |
ORPHA:276432 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Progressive external ophthalmoplegia, Scapular winging, Distal muscle weakness, Ne... |
ORPHA:254854 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Reduced visual acuity, ... |
OMIM:270700 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ataxia, Short stature, Visual loss, Sensorineural hearing impairment, Cr... |
OMIM:249270 |
Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus |
ORPHA:1935 |
Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia, Short stature, Joint contracture of the 5th finger |
OMIM:248910 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Limb... |
OMIM:229300 |
Glycine Encephalopathy 1 |
|
Lethargy, Myoclonus |
OMIM:605899 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Spastic paraplegia, Babinski sign, Ab... |
ORPHA:459056 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Hypospadias, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Nonprogressive ... |
OMIM:610198 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Myopia, Ataxia, Clumsiness, Depr... |
ORPHA:309288 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal... |
OMIM:209900 |
Isaacs Syndrome |
|
Weight loss, Distal sensory impairment, Calf muscle hypertrophy, Fasciculations, Muscle weakness |
ORPHA:84142 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... |
ORPHA:1320 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive, Short stature, Optic nerve hypoplasia, Inability... |
OMIM:617864 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Low-set ears, Conductive hearing impairment, Intrauterine growth ret... |
OMIM:616910 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness, Hemiplegia, Hemiparesis |
OMIM:609634 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Sensorineural hearing impairment, Optic atrophy, Hypertonia, Gait disturbance, Low-set ea... |
ORPHA:2971 |
Nephronophthisis 15 |
|
Blindness, Obesity, Retinal degeneration |
OMIM:614845 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Gait distu... |
ORPHA:395 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Obesity, Reduced visual acuity, High myopia,... |
OMIM:613464 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Short stature, Constriction of peripheral visual field, Cryptorchidis... |
OMIM:300578 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shuffling gai... |
OMIM:168601 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Biotinidase Deficiency |
|
Diffuse cerebral atrophy, Ataxia, Visual loss, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:253260 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age, Low-set ears |
OMIM:610498 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Gliosis, Athetosis, Myoclonus, Oculomotor apraxia, Cone/cone-rod dystrophy, Cerebellar at... |
ORPHA:404454 |
Meningococcal Meningitis |
|
Papilledema, Photophobia, Paresthesia, Lethargy, Hearing impairment |
ORPHA:33475 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, Myopi... |
ORPHA:370959 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness, Poor coordination, Cerebral atrophy, Gait disturbance, Failure to thrive |
OMIM:250940 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Diplopia, Gran... |
OMIM:609454 |
Craniometaphyseal Dysplasia |
|
Facial palsy, Sensorineural hearing impairment, Conductive hearing impairment, Visual impairment,... |
ORPHA:1522 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Short stature, Dysmenorrhea, Increased sarcoplasmic glycogen, Progressiv... |
ORPHA:264580 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Myopia, Poor head control, Ankle flexion contracture, Inability to walk, Cere... |
OMIM:617802 |
Tay-Sachs Disease |
|
Exaggerated startle response, Blindness, Poor head control, Hypertonia, Apathy, Cherry red spot o... |
OMIM:272800 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Failure to thrive, Clitoral hypertrophy, Small for gestational age, Hypospadi... |
OMIM:614866 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Ataxia, Vertigo, Diplopia, Slurred speech, Reduced visual acuity, Photophobia... |
ORPHA:209967 |
Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Postnatal growth retardation, Chorioretinal atrophy, Spastic d... |
ORPHA:2177 |
Crouzon Syndrome |
|
Amblyopia, Optic atrophy, Conductive hearing impairment, Narrow internal auditory canal, Hearing ... |
ORPHA:207 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... |
ORPHA:457205 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Aplasia/Hypoplasia of the external ear, Gliosi... |
ORPHA:168486 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Distal muscle weakness, Hypogon... |
ORPHA:298 |
Retinitis Pigmentosa 40 |
|
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... |
OMIM:613801 |
Neutral Lipid Storage Myopathy |
|
Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske... |
ORPHA:98908 |
Crigler-Najjar Syndrome |
|
Lethargy, Vertigo, Ophthalmoparesis, Hearing impairment |
ORPHA:205 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, Gliosis, Myoclonus,... |
OMIM:614946 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Joubert Syndrome 35 |
|
Ataxia, Nyctalopia, Progressive visual loss, Low-set ears, Oculomotor apraxia, Rod-cone dystrophy |
OMIM:618161 |
Typhoid |
|
Tremor, Lethargy, Hypertonia, Ataxia |
ORPHA:99745 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Myopia, Abnormal retinal ... |
ORPHA:1390 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Cerebral atrophy, Growth delay, Lethargy, Abnormal posturing, Failure to thrive |
OMIM:614857 |
Abetalipoproteinemia |
|
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Steppage gait, H... |
ORPHA:14 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Pick Disease Of Brain |
|
Diminished motivation, Neuronal loss in central nervous system, Gliosis, Apathy |
OMIM:172700 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Myopia, Contracture of the proximal interphalangeal joint of the 2nd finger, A... |
OMIM:617201 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Sensorineural hearin... |
OMIM:612989 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Radio-Tartaglia Syndrome |
|
Ataxia, Tremor, Precocious puberty, Obesity, Large earlobe, Gait imbalance, Low-set ears, Conduct... |
OMIM:619312 |
Monosomy 18Q |
|
Myopia, Failure to thrive, Astrocytoma, Short stature, Abnormal retinal morphology, Bilateral cry... |
ORPHA:1600 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Short stature, Tremor, Hypogonadism, Lethargy, Failure to thrive, Decreased testicular size |
OMIM:201100 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Flexion contracture, ... |
ORPHA:398069 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Proximal muscle weakness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Mac... |
OMIM:258870 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Ataxia, Facial palsy, Autophagic vacuoles, Proximal muscle weakness, Trem... |
OMIM:164310 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears... |
OMIM:618598 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Reduc... |
OMIM:616188 |
Secondary Syringomyelia |
|
Somatic sensory dysfunction, Bulbar palsy, Paroxysmal vertigo, Paraplegia, Sensory ataxia, Fatiga... |
ORPHA:99857 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Babinski sign, Flexion contracture, Cerebral atrophy, Tetraparesis, Lethargy, ... |
OMIM:617105 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Retinal detachment, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Small scrotum, Abnormal pinna morphology, Small for gestational age, Rhizomel... |
OMIM:607143 |
Kniest Dysplasia |
|
Retinal detachment, Hip contracture, Myopia, Rhizomelia, Disproportionate short-trunk short statu... |
OMIM:156550 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Optic atrophy, Visual impairment |
ORPHA:93262 |
Saethre-Chotzen Syndrome |
|
Short stature, Amblyopia, Prominent crus of helix, External ear malformation, Sensorineural heari... |
ORPHA:794 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Cerebral visual impairment, Inability to walk, Depression, Brain at... |
OMIM:620114 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia |
OMIM:222748 |
Trichinellosis |
|
Facial palsy, Vertigo, Ophthalmoplegia, Diplopia, Retinal hemorrhage, Central retinal artery occl... |
ORPHA:863 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Central scotoma, Sensorineural hearing impairment, Visual lo... |
OMIM:616648 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Short stature, Facial palsy, Optic atrophy, Visual impairment, Hearing impairment |
ORPHA:53 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Acrootoocular Syndrome |
|
Small hypothenar eminence, Small for gestational age, Short stature, Decreased response to growth... |
ORPHA:2980 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Ataxia, Paraplegia |
ORPHA:927 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Lethargy, Ataxia, Weight loss |
ORPHA:79242 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skelet... |
ORPHA:324581 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Obesity, Chore... |
ORPHA:261197 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... |
OMIM:618186 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature, Hypergonadotropic hypogon... |
ORPHA:3085 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... |
ORPHA:98914 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Progressive external ophthalmoplegia |
ORPHA:254857 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Abnormal pinna morphology, Proximal... |
ORPHA:26791 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Impaired temperature s... |
ORPHA:398079 |
Filippi Syndrome |
|
Cerebellar atrophy, Dystonia, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Decrea... |
OMIM:272440 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ataxia, Short stature, Cryptorchidism, Se... |
ORPHA:2377 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, External ophthalmoplegia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
Papillorenal Syndrome |
|
Retinal detachment, Short stature, Morning glory anomaly, Macular hyperpigmentation, Sensorineura... |
OMIM:120330 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... |
ORPHA:52427 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Caudate atrophy, Failure to thrive, Optic nerve hypoplasia, Blindne... |
OMIM:615574 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Poor head control, Cachexia, Flexion contracture, Axial muscle weakness,... |
ORPHA:157973 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Clonus, Vertigo, Tetraplegia, Spasticity, Cerebral cortical atrophy, Hearing impairment |
ORPHA:3137 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory... |
ORPHA:365 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... |
ORPHA:309246 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Abnormal pinna morphology, Short stature, Hypospadias, Tremor, Cryp... |
OMIM:300354 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Small for gestational age, Short stature, Cryptorchidism, Sensorineural hearing i... |
OMIM:616817 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Oculodentodigital Dysplasia |
|
Myopia, Ataxia, Camptodactyly of finger, External ear malformation, Optic atrophy, Abnormality of... |
ORPHA:2710 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Tremor, Reduced visual acuity, Pigmentary retinopathy, Abnormality of extrapyr... |
OMIM:277400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Growth del... |
ORPHA:79282 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Weight loss |
ORPHA:30925 |
Down Syndrome |
|
Myopia, Aganglionic megacolon, Impaired pain sensation, Obesity, Decreased fertility, Macroglossi... |
ORPHA:870 |
Cohen Syndrome |
|
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Facial hypotonia, Bull'... |
OMIM:216550 |
19P13.12 Microdeletion Syndrome |
|
Myopia, Hypospadias, External ear malformation, Precocious puberty, Sensorineural hearing impairm... |
ORPHA:254346 |
Lissencephaly, X-Linked, 2 |
|
Micropenis, Gliosis, Low-set ears, Ambiguous genitalia, Spasticity, Decreased testicular size |
OMIM:300215 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatile tinnitus, Tremor, Cranial nerv... |
ORPHA:276621 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness, Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous system phy... |
OMIM:598500 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Otofaciocervical Syndrome |
|
Scapular winging, Short stature, Protruding ear, Abnormal antihelix morphology, Hypertonia, Atres... |
ORPHA:2792 |
Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Amblyopia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Hypermetropia... |
OMIM:618060 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Posteriorly rotated ears, Failure to thrive in infancy, Short stature, Rhizom... |
OMIM:611209 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Ataxia, Short stature, Cerebral visual impairment, Inability to walk, Annular pa... |
ORPHA:488642 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Neoplasm of the gallbladder,... |
ORPHA:512 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Weakness of facial musculature, External ophthalmoplegia, Flexion contracture, Abnormal p... |
OMIM:201470 |
Propionic Acidemia |
|
Short stature, Cerebral atrophy, Dystonia, Lethargy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Ataxia, Short stature |
ORPHA:1861 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Skeletal muscle atrophy, Retinal atrophy, Retinal dystrophy, Mild postnatal gr... |
ORPHA:90324 |
Kallmann Syndrome |
|
Hypoplasia of penis, Tremor, Micropenis, Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, O... |
ORPHA:478 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Blindness, Ataxia, Short stature, Retinal telangiectasia, Tremor, Postnatal growth retardation, O... |
OMIM:612199 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigment, Depression, Abnormality of ... |
OMIM:162350 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... |
OMIM:312612 |
Carnitine Deficiency, Systemic Primary |
|
Proximal muscle weakness, Myopathy, Reduced muscle carnitine level, Lethargy, Failure to thrive, ... |
OMIM:212140 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Stickler Syndrome, Type I |
|
Retinal detachment, Myopia, Blindness, Sensorineural hearing impairment, Vitreoretinopathy, Membr... |
OMIM:108300 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Impotence, Hypogonadism, Muscle weakness |
ORPHA:79230 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea |
OMIM:602390 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Blindness, Aganglionic megacolon, Retinal dystrophy, Ataxia, C... |
ORPHA:2318 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Depression, Weight loss |
ORPHA:178029 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Constriction of peripheral visual field, Ataxia, Tremor, Sensorineural hearing... |
OMIM:618527 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Small scrotum, Flexion cont... |
ORPHA:98905 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Uplifted earlobe, Large for gestational age, Precocious puberty, Hypermetropia, Gl... |
ORPHA:261652 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of fing... |
ORPHA:2990 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Blindness, Ataxia, Postural trem... |
ORPHA:67036 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Flexion co... |
OMIM:270200 |
Coffin-Siris Syndrome 6 |
|
Short stature, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Diaphragmat... |
OMIM:617808 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hyper... |
ORPHA:268261 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Atrophy/Degeneratio... |
ORPHA:66634 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... |
OMIM:193220 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inability to walk, Atrophy of the spin... |
ORPHA:2822 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Diffuse cerebral atrophy, Blindness, Spasticity, Macroglossia, Abno... |
ORPHA:79255 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Rhabdomyolysis, Generalized muscle weakness, Pigmentary retinopathy, M... |
OMIM:609015 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Facial palsy, Optic atrophy, Ophthalmoparesis, Facial paralysis, Failure to thrive, Vi... |
OMIM:259700 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... |
OMIM:618056 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating... |
ORPHA:91349 |
Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ambiguous genitalia, Ataxia, Cryptorchidism, Spastic paraplegia, Optic a... |
OMIM:614969 |
Meningioma |
|
Bitemporal hemianopia, Reduced circulating prolactin concentration, Neoplasm of the anterior pitu... |
ORPHA:2495 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Ataxia, Short stature, Tremor, Bilateral cryptorchidism, Growt... |
ORPHA:2754 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal ... |
ORPHA:3082 |
Fanconi Anemia, Complementation Group I |
|
Myopia, Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t... |
OMIM:609053 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:237300 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Failure to thrive, Ataxia, Cerebral visual impairment, Paralysis, Visual loss... |
OMIM:203700 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Poor head control, Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign... |
ORPHA:280219 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Failure to thrive, Cerebral palsy, Ataxia, Limb joint contracture, Short stature, Inability to wa... |
ORPHA:505237 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Chorioretinal atrophy, A... |
ORPHA:415 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Myopia, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Gait ataxia, D... |
ORPHA:496790 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Depression, Apathy, Dystonia... |
OMIM:168605 |
Adducted Thumbs Syndrome |
|
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita |
OMIM:201550 |
Birk-Aharoni Syndrome |
|
Inability to walk, Chorea, Cryptorchidism, Spastic tetraplegia, Micropenis, Failure to thrive, He... |
OMIM:620071 |
Xfe Progeroid Syndrome |
|
Attenuation of retinal blood vessels, Blindness, Severe short stature, Premature ovarian insuffic... |
OMIM:610965 |
Johnson Neuroectodermal Syndrome |
|
Severe short stature, Facial palsy, Protruding ear, Microtia, Hypogonadism, Atresia of the extern... |
ORPHA:2316 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Mixed hearing impairment, Ataxia, Cerebral visual impairment |
OMIM:620012 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Severe short-limb dwarfism, Congenital blindness |
ORPHA:436182 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Joubert Syndrome 6 |
|
Blindness, Ataxia, Bile duct proliferation, Chorioretinal coloboma, Oculomotor apraxia, Retinal d... |
OMIM:610688 |
Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Nyctalopia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Vis... |
OMIM:600151 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Hypoplasia of penis, Aganglionic megacolon, Short stature, Ambiguous genitalia... |
ORPHA:847 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Generalized dystonia, Short stature, Sensorineural hearing impairment, Macroglossia |
ORPHA:79107 |
Erythrokeratodermia Variabilis |
|
Short stature, Weight loss, Protruding ear, Abnormal testis morphology, Hearing impairment |
ORPHA:317 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Ophth... |
ORPHA:320375 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Short stature, External genital hypoplasia, Precocious puberty, Crypto... |
OMIM:201000 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Blindness, Corpus callosum atrophy, Atrophy/Degeneration affecting the ... |
ORPHA:77299 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Mic... |
ORPHA:79113 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Small scrot... |
OMIM:615663 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... |
ORPHA:1145 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Lower limb spasticity, Ataxia, Foot joint... |
ORPHA:90321 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Muscle weakness, Large for gestational age |
ORPHA:276580 |
Rhyns Syndrome |
|
Total ophthalmoplegia, Short stature, Decreased response to growth hormone stimulation test, Sens... |
OMIM:602152 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Myopia, Blindness, Incoordination, Posteriorly rotated ears, Facial hypotonia... |
ORPHA:468678 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Myopia, Posteriorly rotated ears, Short stature, Nyctalopia, High myopia, Low... |
OMIM:617763 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Hypospadias, Cachexia, Sensorineural hearing impai... |
ORPHA:3242 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Upper motor neuron dysfunction, Genera... |
ORPHA:306674 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Failure to thrive, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral... |
OMIM:124000 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Shor... |
ORPHA:2510 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, High myopia, Bilate... |
OMIM:220500 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Optic atrophy, Decreased body weight, Macrotia |
ORPHA:1672 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Short stature, Impaired pain sensation, Cryptorchidism, Anterior creases of ea... |
ORPHA:314389 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Short stature, Decre... |
OMIM:203800 |
Cinca Syndrome |
|
Blindness, Retrobulbar optic neuritis, Sensorineural hearing impairment, Growth delay, Pseudopapi... |
ORPHA:1451 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Cerebral visual impairment,... |
ORPHA:401777 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Cryptorchidism, Cerebral atrophy, Gait ataxia, Dys... |
OMIM:618917 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatile tinnitus, Tremor, Cranial nerv... |
ORPHA:29072 |
Cockayne Syndrome A |
|
Tremor, Micropenis, Retinal atrophy, Ataxia, Short stature, Retinal pigment epithelial mottling, ... |
OMIM:216400 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Short stature, Hypos... |
OMIM:300998 |
Prolactinoma |
|
Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Internal ophtha... |
ORPHA:2965 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Nyctalopia, Hypertonia, Hemiplegia/hemiparesis |
ORPHA:2571 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Short stature, Cryptorchidism, Sensorineural hearing i... |
ORPHA:1307 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short stature, Rod-cone dystrophy, Nyctalopia, Cryptorchidism, Abnormality of pattern visual evok... |
ORPHA:166035 |
Burn-Mckeown Syndrome |
|
Short stature, Hearing impairment, Protruding ear, Conductive hearing impairment, Hypomimic face |
OMIM:608572 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Myopia, Atresia of the exter... |
ORPHA:3236 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Poor head control, Lower limb spasticity, Involuntary movements, Decreased ner... |
ORPHA:565624 |
Brittle Cornea Syndrome |
|
Retinal detachment, Visual loss, Sensorineural hearing impairment, High myopia, Gait disturbance,... |
ORPHA:90354 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment, Abnormality of vision |
ORPHA:1997 |
Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Low-set ears, Camptodactyly, Conductive hearing impairment, J... |
OMIM:136760 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation, Short stature |
ORPHA:1573 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Severe short stature, Thenar muscle atrophy, Microtia, Atresia of the external auditory canal, Co... |
ORPHA:2213 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Low-set ears... |
OMIM:244300 |
Encephalitis Lethargica |
|
Parkinsonism, Tremor, Diplopia, Upper limb muscle weakness, Photophobia, Lethargy |
ORPHA:83600 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... |
OMIM:620327 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, C... |
OMIM:616875 |
Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Hypoesthesia, Sensorineur... |
OMIM:603041 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... |
ORPHA:144 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Impaired pain sensation, Cryptorchidism, Obesity,... |
ORPHA:412035 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Myopia, Lower limb spasticity, Underdeveloped superior crus of antihelix, Short stature, Hypogona... |
ORPHA:293967 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... |
OMIM:617547 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
White-Sutton Syndrome |
|
Waddling gait, Myopia, Failure to thrive, Posteriorly rotated ears, Optic nerve hypoplasia, Facia... |
OMIM:616364 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Myopia, Abnormal pinna morphology, Short stature, Abnormality ... |
ORPHA:949 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Generalized muscle weakness, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis... |
ORPHA:88619 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cerebral visual impairment, Visual loss, Limb ataxia, Undetectable visual evoked potentials, Trun... |
OMIM:619051 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Weight loss, Apathy, Infertility, Erectile ... |
ORPHA:465508 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Generalized amyotrophy |
OMIM:610006 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment |
OMIM:618939 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Apathy |
ORPHA:178509 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Tongue fasciculations, Myoclonus, Lethargy, Cerebral cortical atrophy, Hearing impairment |
OMIM:614922 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy, Growth delay, Goiter |
OMIM:274400 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Posteriorly rotated ears, Facial hypotonia, Cachexia, Failure to thrive in infan... |
OMIM:616801 |
Native American Myopathy |
|
Muscle fiber atrophy, Skeletal muscle atrophy, Short stature, Inability to walk, Abnormality of s... |
ORPHA:168572 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... |
ORPHA:440437 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... |
ORPHA:2549 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Dysmetria, Intrinsic hand mu... |
OMIM:615273 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Myopia, Small scrotum, Ataxia, Short stature, Rhizomelia, Cryptorchidism, Gai... |
OMIM:617164 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Cryptorchidism, Flexion contracture, Photophobia, Limb hypertonia,... |
ORPHA:90322 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Lethargy, Cerebral cortical atrophy, Dystonia |
OMIM:277410 |
Chronic Hiccup |
|
Depression, Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Congenital diaphragmat... |
ORPHA:1488 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Lethargy, Sensorineural hearing impairment, Goiter |
ORPHA:95716 |
Maple Syrup Urine Disease |
|
Lethargy, Hypertonia, Ataxia |
OMIM:248600 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Abnormal visual field test, Tremor, Male hypogonadism, Periodic hypokalemi... |
ORPHA:91347 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... |
ORPHA:368 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Myopia, Ataxia, Crypto... |
OMIM:609136 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Myoclonus, Conductive hear... |
OMIM:615816 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Ophthalmoplegia, Blindness, Protruding ear |
OMIM:618731 |
Moynahan Syndrome |
|
Hypogonadism, Sensorineural hearing impairment, Short stature, Cachexia |
ORPHA:2574 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:220386 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Myopia, Optic nerve hypoplasia, Supernumerary nipple, Impaired pain sensation, Inability to walk,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Myopia, Optic nerve hypoplasia, Supernumerary nipple, Impaired pain sensation, Inability to walk,... |
ORPHA:352665 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth retardatio... |
ORPHA:453533 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Short stature, Clonus, Spastic tetrapares... |
ORPHA:423479 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Myopia, Pain insensitivity, Failure to thrive, Facial hypotonia, Sh... |
OMIM:300534 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telangiectasia,... |
OMIM:620155 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Failure to thrive in infancy |
OMIM:619064 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276556 |
Kbg Syndrome |
|
Cryptorchidism, Macrotia, Bilateral conductive hearing impairment, Short stature |
ORPHA:2332 |
Retinitis Pigmentosa 89 |
|
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... |
OMIM:618955 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Short stature, Cachexia, Diplopia, Optic atrophy, Spasticity, Retinopathy, Hearing impair... |
ORPHA:220295 |
Rett Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dyst... |
OMIM:312750 |
Sotos Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Poor coordination, Increased body weight, Hypermetropia... |
OMIM:117550 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cachexia, Cryptorchidism, Aplasia/Hypoplasia of... |
ORPHA:2471 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Short stature, Cryptorchidism, Hypermetropia, Growth delay, Lethargy, ... |
ORPHA:97362 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276575 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Unilateral cryptorchidism, Atresia of the external audit... |
OMIM:300946 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Lethargy |
ORPHA:95717 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Abnormal pinna morphology, Cerebral visual impairment, Corpus callosum atrophy, Optic atr... |
ORPHA:480898 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Conductive hearing impai... |
OMIM:601076 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Myopia, Ataxia, Short stature, Cryptorchidism, Sensorineural hearing impairment, Ocular albinism,... |
ORPHA:2719 |
Cockayne Syndrome B |
|
Severe short stature, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Sma... |
OMIM:133540 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Abnormality of visual evoked p... |
OMIM:617523 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Low-set ears, Weight loss |
OMIM:620045 |
Leukocyte Adhesion Deficiency Type Ii |
|
Ataxia, Small for gestational age, Short stature, Cerebral atrophy, Impaired tandem gait, Lower l... |
ORPHA:99843 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Zechi-Ceide Syndrome |
|
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... |
ORPHA:217017 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss, Abnormal autonomic nervous system physiology, Vitreous floaters |
ORPHA:85447 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Crouzon Syndrome |
|
Optic atrophy, Atresia of the external auditory canal, Conductive hearing impairment, Visual impa... |
OMIM:123500 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Mixed hearing impairment, High-frequency sensorineural he... |
OMIM:614557 |
Fatal Familial Insomnia |
|
Ataxia, Diplopia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Neuronal ... |
OMIM:600072 |
Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... |
ORPHA:2388 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Idiopathic Panuveitis |
|
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... |
ORPHA:280921 |
Cornelia De Lange Syndrome 1 |
|
Myopia, Short stature, Hypospadias, Congenital diaphragmatic hernia, Abnormal incisura morphology... |
OMIM:122470 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Myopia, Broad-based gait, Exaggerated startle response, Ataxia, Facial hypotonia, External ear ma... |
ORPHA:438216 |
Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Hearing impairment |
ORPHA:557003 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia, Cerebral visual impairment, Hypertonia, Abnormality of visual evoked pot... |
ORPHA:1389 |
Scrub Typhus |
|
Tremor, Lethargy, Photophobia |
ORPHA:83317 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Ataxia, Muscle weakness |
OMIM:275350 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short stature, Rhizomelia, Cryptorchidism, Atresia of the external auditory canal, Conductive hea... |
OMIM:602471 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Short stature, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased muscle mass, Decreased nerve conduction velocity, Corpus callosum a... |
OMIM:261515 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology |
OMIM:214300 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:616726 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Lethargy, Increased body weight, Large for gestational age |
ORPHA:263455 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... |
ORPHA:50815 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Short stature, Cachexia |
ORPHA:1144 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Distal lower limb amyotrophy, Posteriorly rotated ears, Facial hypotonia, Small fo... |
ORPHA:506358 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Multiple Synostoses Syndrome 1 |
|
Waddling gait, Stapes ankylosis, Amblyopia, Progressive conductive hearing impairment, Hypermetro... |
OMIM:186500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Skeletal muscle atrophy, Myopia, Flexion contra... |
OMIM:253800 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Short stature, Proximal muscle weakness, Fatty replacement of skeletal m... |
OMIM:255995 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Multifocal Atrial Tachycardia |
|
Lethargy, Cryptorchidism |
ORPHA:3282 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoked ... |
OMIM:125310 |
Snijders Blok-Fisher Syndrome |
|
Facial hypotonia, Cryptorchidism, Cupped ear, Protruding ear, Choreoathetosis, Opisthotonus, Spas... |
OMIM:618604 |
Methanol Poisoning |
|
Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision |
ORPHA:31825 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Posteriorly rotat... |
ORPHA:2215 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, Flexion contracture, Optic atrophy, Reduced visual acuity, Gait... |
OMIM:304340 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia |
ORPHA:398156 |
Chromosome 1P35 Deletion Syndrome |
|
Posteriorly rotated ears, Ataxia, Short stature, Cryptorchidism, Sensorineural hearing impairment... |
OMIM:617930 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Hypermetropia |
OMIM:184460 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Blindness, Ataxia, Facial palsy, Visual loss, Diplopia, Photophobia, Hemipar... |
ORPHA:68 |
Unilateral Polymicrogyria |
|
Poor head control, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coord... |
ORPHA:268943 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Supernumerary nipple, Cupped ear, Mic... |
ORPHA:246 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Short stature, Camptodactyly of f... |
ORPHA:217085 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Sensorineural hearing impairmen... |
ORPHA:1131 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
Vici Syndrome |
|
Macular atrophy, Postnatal growth retardation, Sensorineural hearing impairment, Ocular albinism,... |
OMIM:242840 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Short stature, Hypospadias, Microtia, Camptodactyly, Conductive hearing impairment |
ORPHA:314679 |
Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Posteriorly rotated ears, Camptodactyly of finger, ... |
ORPHA:263487 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613810 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Bulbar palsy, Rigidity, Sensorin... |
ORPHA:521426 |
Hennekam-Beemer Syndrome |
|
Short stature, Camptodactyly of finger, Optic atrophy, Microtia, Conductive hearing impairment, F... |
ORPHA:2135 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Visual loss, Sensorineural hearing impairment, Vertigo, Weight loss, Abnormal optic nerve morphol... |
ORPHA:3226 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation |
ORPHA:171844 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Infertility, Chronic otitis media, Absent inner and outer dynein arms |
OMIM:618063 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Ataxia, Short stature, Sensorineural hearing impairment, My... |
ORPHA:443811 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Sensorineural hearing impairment, Cond... |
OMIM:118100 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Short stature, Large central visu... |
ORPHA:580 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment, Failure to thrive, Optic atrophy |
ORPHA:561 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Multiple joint contractures, Short stature, Hypospadias... |
OMIM:265000 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Rod-... |
ORPHA:244 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Conductive hearing impairment, Abnormal antihelix morphology, Short stature, Delayed puberty |
ORPHA:3145 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Abnormality of th... |
ORPHA:2556 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:156 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Nyctalopia, Obesity, Oculomotor apraxia, Retinal degeneration |
OMIM:615630 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Short stature, Bilateral cryptorchidism, Sensorineural hearing impairme... |
OMIM:300472 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Depression, Hyperkinetic movements... |
ORPHA:93958 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive, Opisthotonus |
OMIM:210200 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of vision, Conductive hearing impairment, Low-set, posteriorly r... |
ORPHA:1606 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive, Short stature |
OMIM:611590 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy,... |
ORPHA:2526 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Bulbar palsy, Posteriorly rotated ears, Rigidity, Babinski sign, Op... |
OMIM:617527 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Cryptorchidism, O... |
OMIM:236670 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Weight loss, Apathy, Myoclonus, Lethargy, Spasticity |
ORPHA:20 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Incoordination, Small for gestational age, Short stature, Microtia, Low-set ears, Lethargy, Failu... |
OMIM:277380 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Cerebral palsy, Opisthotonus, Lethargy, Failure to thrive |
OMIM:210210 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Absent nipple, Short stature, Facial palsy, Aplasia of the thymus, Ambl... |
OMIM:620186 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Orthostatic hypotension, Premature ovarian insufficiency, Vertigo, Pituitary ... |
ORPHA:199299 |
Citrullinemia Type Ii |
|
Tremor, Mania, Lethargy, Delayed menarche, Decreased body mass index |
ORPHA:247585 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Short stature, Cryptorchidism, Sensorineural hearing impairment, Campto... |
OMIM:616331 |
Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Short stature, Sensorineural hearing impairm... |
ORPHA:388 |
Reticular Dysgenesis |
|
Chronic otitis media, Failure to thrive, Weight loss, Hearing impairment |
ORPHA:33355 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thri... |
OMIM:618201 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Nyctalopia, Hypermetropia, Protruding ear, Rod-cone dystrophy, Visual impairment |
OMIM:614378 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
Behçet Disease |
|
Myositis, Blindness, Ataxia, Orchitis, Retrobulbar optic neuritis, Vertigo, Abnormal pyramidal si... |
ORPHA:117 |
Takayasu Arteritis |
|
Amaurosis fugax, Retinopathy, Muscle weakness, Weight loss |
ORPHA:3287 |
Mandibulofacial Dysostosis With Alopecia |
|
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... |
OMIM:616367 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Short stature, Babinski sign, Optic atrophy, Abnormal autonomic ... |
OMIM:231550 |
Apert Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Ovarian ... |
ORPHA:87 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Uplifted earlobe, Large for gestational age, Cerebral atrophy, Gait ataxia, Hyd... |
OMIM:280000 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Short stature, Recurrent otitis media, Low-set ears |
OMIM:608545 |
Dpagt1-Cdg |
|
Failure to thrive, Ataxia, Akinesia, Tremor, Inability to walk, Nyctalopia, Flexion contracture, ... |
ORPHA:86309 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Lower limb spasticity, Large for gestational age, Cerebral visual impairment, Fl... |
OMIM:300868 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Cerebral visual impairment, Glandular hypospadias, Cerebral atrophy, Lethargy... |
OMIM:620306 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, Small thenar eminence, Microtia, Atresia of the external auditory ... |
OMIM:239800 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Pigmentary retinopathy, Lethargy, Failure to thrive, Intrauterine gr... |
ORPHA:71212 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Clumsiness, Growth delay, Macroglossia, Depression, Macroorchidism, Let... |
ORPHA:90674 |
Sturge-Weber Syndrome |
|
Retinal detachment, Blindness, Abnormal retinal vascular morphology, Hearing abnormality, Optic a... |
ORPHA:3205 |
Waardenburg Syndrome |
|
Aganglionic megacolon, Abnormality of vision, Abnormality of the uterus, Conductive hearing impai... |
ORPHA:3440 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Short stature, Posteriorly rotated ears, Low-set ears |
OMIM:617877 |
Lowry-Wood Syndrome |
|
Small for gestational age, Short stature, Nyctalopia, Elbow flexion contracture, Peripheral visua... |
OMIM:226960 |
Non-24-Hour Sleep-Wake Syndrome |
|
Depression, Blindness, Abnormal pineal melatonin secretion |
ORPHA:73267 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Short stature, Camptodactyly of f... |
ORPHA:217093 |
Phaver Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Aplasia/Hypoplasia of the earlobes, Low-set ea... |
ORPHA:2876 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal gr... |
OMIM:616113 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Micropenis, Growth ... |
OMIM:615546 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... |
OMIM:619649 |
Norrie Disease |
|
Clonus, Protruding ear, Hypertonia, Uterine rupture, Abnormal chorioretinal morphology, Cryptorch... |
ORPHA:649 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Short stature, Protruding ear, Growth delay, Conductive hearin... |
ORPHA:502 |
Evans Syndrome |
|
Lethargy, Muscle weakness |
ORPHA:1959 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Optic atrophy, Chorioretinal atrophy, Cerebral atrophy, Weight loss, Spasti... |
OMIM:619487 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive, Short stature |
ORPHA:2089 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Myopia, Abdominal wall muscle weakness, Abnormal pinna morphology, Posteriorly rotated ears, Cryp... |
OMIM:182212 |
2Q37 Microdeletion Syndrome |
|
Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, Obesity, Conductive hearing... |
ORPHA:1001 |
Pineoblastoma |
|
Papilledema, Paralysis, Pinealoma, Progressive visual field defects, Reduced visual acuity, Letha... |
ORPHA:251909 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Muscle weakness, Exercise-induced rhabdomyolysis |
OMIM:201475 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Poor head control, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short ... |
OMIM:613457 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth de... |
OMIM:608800 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Leprosy |
|
Skeletal muscle atrophy, Blindness, Impaired temperature sensation, Dysesthesia, Dissociated sens... |
ORPHA:548 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... |
ORPHA:300385 |
Helsmoortel-Van Der Aa Syndrome |
|
Poor head control, Posteriorly rotated ears, Facial palsy, Short stature, Decreased response to g... |
OMIM:615873 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Posteriorly rotated ears, Short stature, Abnormality of the middle ear oss... |
OMIM:130720 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Diastasis recti, Postnatal growth retardation, Inability to walk,... |
ORPHA:576 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Sensorineural h... |
ORPHA:2789 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic ... |
OMIM:613309 |
Galactose Epimerase Deficiency |
|
Growth delay, Weight loss |
ORPHA:79238 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss |
ORPHA:100083 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Short stature, Cachexia, Elbow flexion contra... |
ORPHA:371364 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Hypoplasia of penis, Short stature, C... |
ORPHA:110 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Myopia, Ataxia, Facial hypotonia... |
ORPHA:309282 |
Momo Syndrome |
|
Blindness, Retinal coloboma, Obesity, Underfolded helix |
OMIM:157980 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Optic atrophy, O... |
OMIM:614947 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Short stature |
ORPHA:1006 |
Shprintzen-Goldberg Syndrome |
|
Myopia, Posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of ... |
ORPHA:2462 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Vertigo, Diplopia, Weight loss, Abnormal optic nerve morphology, Muscle flacc... |
ORPHA:679 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Pancreatic hypoplasia, Arthrogryposis... |
ORPHA:99885 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Clumsiness, Proximal musc... |
ORPHA:905 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Short stature, Posteriorly rotated ears, Pineal cyst, Low-set ears, Conductive hearing impairment |
OMIM:618885 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, Overfolded helix, Short stature, Low-set ears |
OMIM:617412 |
Cryptococcosis |
|
Blindness, Abnormal retinal morphology, Ophthalmoplegia, Prostatitis, Vitritis, Abnormality of vi... |
ORPHA:1546 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Optic nerve hypop... |
ORPHA:226307 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Spastic tetraplegia, High myopia, Growth delay, Photophobia, Brain atrophy, Abnormality of visual... |
OMIM:614457 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Episodic ataxia, Lethargy, Failure to thrive, Ataxia |
OMIM:311250 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Intrauterine growth r... |
OMIM:617914 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, Posteriorly rotated ears, Facial palsy, Low-set ears, Conductive hearing im... |
ORPHA:2780 |
De Barsy Syndrome |
|
Decreased muscle mass, Short stature, Postnatal growth retardation, Cryptorchidism, High myopia, ... |
ORPHA:2962 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Optic atrophy, Elbow ... |
OMIM:617301 |
Momo Syndrome |
|
Blindness, Short stature, Underfolded helix, Large for gestational age, Obesity, Chorioretinal co... |
ORPHA:2563 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Aganglionic megacolon, Postnatal growth retardation, Sensorineural hearing... |
ORPHA:959 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... |
OMIM:216900 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Blindness, Hypoplasia of penis, Abnormal tragus morphology, Ma... |
ORPHA:66625 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Myopia, Short stature, Sensorineural hearing impairment, Myopathy, Low-s... |
ORPHA:536545 |
Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Small for gestational age, Short stature, Conductive hearing impairment, Hearing impa... |
OMIM:616229 |
Treacher-Collins Syndrome |
|
Failure to thrive, Hypoplasia of penis, Small scrotum, Cryptorchidism, Blepharospasm, Microtia, H... |
ORPHA:861 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Somatic sensory dysfunction, Torticollis, Metrorrhagia, Precocious pube... |
ORPHA:370348 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness |
OMIM:259710 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Paraspinal muscle hypertrophy, Rigidity, Falls, Difficulty walking |
ORPHA:3198 |
Norrie Disease |
|
Retinal detachment, Blindness, Sensorineural hearing impairment, Optic atrophy, Retinal dysplasia... |
OMIM:310600 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Nyctalopia, Failure to thrive |
ORPHA:79301 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Ear pain, Cranial nerve compression, Vocal cord paralysis, Weight loss, Depression, ... |
ORPHA:221098 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Microtia, M... |
OMIM:603467 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Blindness, Short stature, Protruding ear, Abnormality of vision, Hearing impairment |
ORPHA:1806 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Blindness, Hypospadias, Hearing impairment |
OMIM:601499 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Hype... |
OMIM:252160 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Short stature, Abnormality of vision |
ORPHA:2095 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Proximal limb muscle stiffness,... |
OMIM:184850 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Cupped ear, Growth delay, Low... |
OMIM:263750 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Rhabdomyolysis, Muscle weakness |
OMIM:212138 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Cryptorchidism, Sensorineural hearing impairment, Low-set ears... |
OMIM:235510 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Decreased muscle mass,... |
ORPHA:813 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Myopia, Posteriorly rotated ears, Cerebral visual impairment, Sensorineural hearing impairment, P... |
ORPHA:466943 |
Tenosynovial Giant Cell Tumor |
|
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... |
ORPHA:66627 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Posteriorly rotated ears, Small for gestational age, Decreased response to ... |
OMIM:616835 |
Aica-Ribosuria Due To Atic Deficiency |
|
Fused labia minora, Optic atrophy, Low-set ears, Congenital blindness, Clitoral hypertrophy |
OMIM:608688 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Extraadrenal pheochromocytoma, Pulsatile tinnitus, Vocal cord paralysis, Adrenal pheochromocytoma... |
OMIM:168000 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Severe short stature |
ORPHA:3238 |
Chediak-Higashi Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Ocular albinism, Reduced visual acuity, Phot... |
OMIM:214500 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Posteriorly rotated ears, Increased muscle lipid content, Elbow flexion contracture, Knee flexion... |
OMIM:608836 |
Citrullinemia, Classic |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:215700 |
Marshall-Smith Syndrome |
|
Myopia, Short stature, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Cerebral... |
OMIM:602535 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Optic atrophy, Reduced visual acuity, Dysmetria, Kne... |
OMIM:619708 |
Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Gr... |
ORPHA:99832 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Flexion contr... |
OMIM:614225 |
Frontometaphyseal Dysplasia |
|
Mixed hearing impairment, Interphalangeal joint contracture of finger, Hypoplasia of the musculat... |
ORPHA:1826 |
Cancer-Associated Retinopathy |
|
Vitritis, Photophobia, Prostate cancer, Pancreatic adenocarcinoma, Retinal atrophy, Paracentral s... |
ORPHA:71505 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment |
OMIM:615706 |
Dysosteosclerosis |
|
Blindness, Disproportionate short stature, Optic atrophy, Facial paralysis, Hearing impairment |
OMIM:224300 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Myopathy, Muscular dystro... |
OMIM:307030 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Short stature, Postnatal growth retardation, Weight loss, Depression, Infertility, Delaye... |
OMIM:212750 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hypoplasia of penis, Short stature, Camptodactyly of finger, Cachexia, Tremor, ... |
ORPHA:85293 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Short stature, Unilateral cryptorchidism, Impaired pain sensation, ... |
ORPHA:96149 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Multicentric Reticulohistiocytosis |
|
Muscle weakness, Cachexia |
ORPHA:139436 |
Kabuki Syndrome |
|
Failure to thrive, Hypoplasia of penis, Short stature, Hypospadias, Congenital diaphragmatic hern... |
ORPHA:2322 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Conduc... |
ORPHA:95699 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Gliosis,... |
OMIM:252150 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Sensorineural hearing impairment, Growth delay, Mi... |
OMIM:618500 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Gliosis, Apathy, Apraxia, Neuronal loss in central nervous system, Cerebral cortica... |
OMIM:607485 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:251000 |
Methylmalonic Aciduria, Cbla Type |
|
Tremor, Lethargy, Failure to thrive |
OMIM:251100 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Short stature, Achilles tendon contracture, Nyctalopia, Elbow flexion contrac... |
OMIM:252940 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Sensorineural hearing impairment, Growth delay, Microtia, Atresia of the external au... |
OMIM:601390 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of fin... |
ORPHA:2753 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Obesi... |
OMIM:619471 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Intercostal muscle weakne... |
ORPHA:258 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Supernumerary nipple, Atresia of the external auditory canal, Conductive hearing imp... |
OMIM:106260 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Gliosis, Muscle weakness |
OMIM:231680 |
Thymic Carcinoma |
|
Fatigable weakness, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness, Camptodactyly of finger |
ORPHA:2741 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Hypospadias, Tremor, Truncal ataxia, Dysmetria, Gliosis, Low-s... |
OMIM:220111 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing... |
OMIM:610536 |
Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis... |
OMIM:164200 |
Mccune-Albright Syndrome |
|
Blindness, Hyperparathyroidism, Elevated circulating growth hormone concentration, Precocious pub... |
OMIM:174800 |
Webb-Dattani Syndrome |
|
Blindness, Short stature, Decreased response to growth hormone stimulation test, Anterior pituita... |
OMIM:615926 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Hearing abnormality, Weight loss, Severe short-limb dwarfism, Failure to thrive |
ORPHA:1842 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Small for gestational age, Overweight, Obesity, Lethargy |
ORPHA:26793 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:135100 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Chronic otiti... |
ORPHA:567 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Optic atrophy, Hypogonadi... |
ORPHA:1328 |
Stickler Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Myopia, Short stature, Blindness, Cachexia, Hemipleg... |
ORPHA:828 |
Cystinosis, Nephropathic |
|
Male infertility, Skeletal muscle atrophy, Blindness, Failure to thrive in infancy, Short stature... |
OMIM:219800 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia |
OMIM:248390 |
Agnathia-Otocephaly Complex |
|
Conductive hearing impairment, Low-set ears, Synotia |
OMIM:202650 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity, Hypermetropia, Recurrent otitis media, Disproportionate short-limb short stature, Conduc... |
OMIM:250420 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Conductive hearing i... |
ORPHA:1297 |
Aica-Ribosiduria |
|
Congenital blindness, Clitoral hypertrophy, Fused labia minora, Low-set ears |
ORPHA:250977 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Myopia, Mixed hearing impairment, Short stature, Decreased res... |
ORPHA:444077 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Rhabdomyolysis, Muscle weakness |
ORPHA:159 |
Argininosuccinic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:207900 |
Whipple Disease |
|
Myositis, Ataxia, Cachexia, Abnormal pyramidal sign, Depression, Myoclonus, Erectile dysfunction,... |
ORPHA:3452 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Myopia, Small for gestational age, Ataxia, Short stature, Hypospadias, Cryptorchidism, Sensorineu... |
OMIM:300661 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Rod-cone dystrophy, Nyctalopia, Peripheral visual field loss, Hypoautofluorescent ... |
OMIM:250410 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Retinal atrophy, Short stature, Abnormal retinal morphology, Cranial nerve com... |
ORPHA:2785 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal central motor function, P... |
ORPHA:3385 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Short stature, Cryptorchidism, Growth delay, Exudative retinopathy, Intrauterine growth r... |
OMIM:613990 |
Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Paresthesia, Weight loss |
ORPHA:3165 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hypertonia, Abnormality of the uterus, Cond... |
ORPHA:199 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive |
OMIM:256700 |
Cleft Velum |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:99772 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Thickened helices, Conductive hearing impairment, Myopia, Abnormal external genitalia, Hypospadia... |
OMIM:607872 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... |
ORPHA:217346 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Failure to thrive, Small for gestational age, Myopia, Ankl... |
ORPHA:464311 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Optic atrophy, Facial palsy |
OMIM:218400 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617281 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Short stature |
OMIM:311300 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Low-set ears, Intr... |
ORPHA:1438 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Posteriorly rotated ears, Facial palsy, Short stature, Microtia, Low-set ears,... |
OMIM:300373 |
Diets-Jongmans Syndrome |
|
Short stature, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Gliosis, Long ear, H... |
OMIM:618846 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Weight loss, Paresthesia, Hypogona... |
ORPHA:2905 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Constriction of peripheral visual field, Failure to thrive in infancy, Macular atrophy, Nyctalopi... |
OMIM:619418 |
Codas Syndrome |
|
Short stature, Cryptorchidism, Sensorineural hearing impairment, Rectovaginal fistula, Conductive... |
OMIM:600373 |
Cerebrooculonasal Syndrome |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Postnatal growth retardation, Low-set ears, Hyp... |
OMIM:605627 |
Saul-Wilson Syndrome |
|
Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Nyctalopia, Intrau... |
OMIM:618150 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Lethargy, Failure to thrive, Intrauterine growth retardation |
ORPHA:79284 |
Rodrigues Blindness |
|
Blindness, Short stature, Protruding ear |
OMIM:268320 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Hypospadias, Congenital diaphragmatic hernia, External ear malformation, Cryptorch... |
ORPHA:251071 |
Arima Syndrome |
|
Blindness, Ataxia, Retinal dystrophy, Optic atrophy, Growth delay, Chorioretinal coloboma |
OMIM:243910 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture... |
OMIM:618175 |
Familial Hypoaldosteronism |
|
Growth delay, Lethargy, Orthostatic hypotension, Failure to thrive |
ORPHA:427 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
X-Linked Agammaglobulinemia |
|
Short stature, Sensorineural hearing impairment, Weight loss, Chronic otitis media, Failure to th... |
ORPHA:47 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight... |
ORPHA:79102 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Short stature, Congenital diaphragmatic herni... |
OMIM:606164 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Blindness, Knee flexion contracture |
OMIM:603387 |
Fontaine Progeroid Syndrome |
|
Failure to thrive, Small scrotum, Posteriorly rotated ears, Small for gestational age, Short stat... |
OMIM:612289 |
Rhabdoid Tumor |
|
Oculomotor nerve palsy, Cerebral palsy, Hemiplegia, Weight loss |
ORPHA:69077 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... |
ORPHA:2878 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Decreased response to growth hormone stimulation t... |
ORPHA:273 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Rhabdomyolysis, Weight loss, Muscle weakness, Goiter |
OMIM:188580 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Recurrent otitis media, Lethargy, Failure to thrive, Hemiparesis |
OMIM:620233 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Short stature, Growth delay, Conductive hearing impairment, Intraut... |
ORPHA:1225 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Hypertonia, Wrist flexion contracture, Low-set, posteriorly rotated ears... |
ORPHA:800 |
Hyperekplexia 2 |
|
Myopia, Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Short stature |
OMIM:171480 |
Trisomy 8P |
|
Multiple joint contractures, Posteriorly rotated ears, Cryptorchidism, Annular pancreas, Aplasia/... |
ORPHA:264450 |
Branchiooculofacial Syndrome |
|
Myopia, Posteriorly rotated ears, Facial palsy, Hypospadias, Supernumerary nipple, Postnatal grow... |
OMIM:113620 |
Focal Myositis |
|
Myositis, Muscle weakness, Weight loss |
ORPHA:48918 |
Necrotizing Enterocolitis |
|
Lethargy, Small for gestational age |
ORPHA:391673 |
Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Blindness, Cerebral palsy, Bilateral sensorineural hearing impairment |
ORPHA:853 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis... |
ORPHA:3042 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Abnormal pinna morphology, Elbow contracture, Cryptorchid... |
OMIM:617137 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss, Hearing impairment |
ORPHA:65682 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste... |
OMIM:608257 |
Joubert Syndrome 5 |
|
Ataxia, Reduced visual acuity, Retinal coloboma, Oculomotor apraxia, Congenital blindness, Rod-co... |
OMIM:610188 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Growth delay, Mixed hearing impairment, Short stature, Sensorineural hearing impairment |
OMIM:604804 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Cherry red spot of the macula, Spasticity, Cerebral cort... |
ORPHA:309155 |
Cleft Lip/Palate |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:199306 |
Otofaciocervical Syndrome 1 |
|
Scapular winging, Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, Conductive hea... |
OMIM:166780 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Rhizomelia, Hypospadias, Postnatal growth retar... |
ORPHA:709 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Goiter, Periodic paralysis, Weight loss |
OMIM:613239 |
Dengue Fever |
|
Lethargy |
ORPHA:99828 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss, Apathy, Extrapyramidal dyskinesia, Spasticity |
ORPHA:134 |
Larsen Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Short stature |
ORPHA:503 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
3Mc Syndrome 1 |
|
Diastasis recti, Supernumerary nipple, Postnatal growth retardation, Growth delay, Conductive hea... |
OMIM:257920 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
Enhanced S-Cone Syndrome |
|
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Hunter-Macdonald Syndrome |
|
Myopia, Short stature, Hypospadias, Sensorineural hearing impairment, Camptodactyly, Conductive h... |
OMIM:611962 |
Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Small for gestational age, Short stature, Hypospadias, Precocio... |
ORPHA:2044 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Bilateral cryptorchidism, Protruding ear, Micropenis, Gliosis, Low-set ears, C... |
OMIM:617403 |
Polymyositis |
|
Weight loss, Gait disturbance, Proximal muscle weakness, Abnormal muscle fiber morphology |
ORPHA:732 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Absent outer dynein arms, Chronic otitis media, Male infertility |
OMIM:244400 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Polycystic ovaries, Hemiplegia, Lethargy, Failure to thrive |
ORPHA:137675 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Blindness, Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture,... |
OMIM:148210 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Muscle weakness, Weight loss |
OMIM:275000 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Vertigo, Rhabdomyolysis, Lethargy, Muscle weakness |
ORPHA:466650 |
Achondroplasia |
|
Conductive hearing impairment, Rhizomelia, Neonatal short-limb short stature, Recurrent otitis media |
OMIM:100800 |
Orofaciodigital Syndrome Vi |
|
Short stature, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Failure to ... |
OMIM:277170 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Short stature, Abnormality of the middle ear ossicles, Sensorineural he... |
OMIM:609166 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Uplifted earlobe, Flexion contracture, Conductive hearing impairment, Webbed penis... |
ORPHA:2152 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Spasticity, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Myopia, Astrocytoma, Ataxia, Short stature, Precocious puber... |
ORPHA:636 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Renpenning Syndrome 1 |
|
Blindness, Short stature, Hypospadias, Phimosis, Cupped ear, Cerebral atrophy, Protruding ear, Hy... |
OMIM:309500 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... |
ORPHA:652 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Hajdu-Cheney Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Large earlobe, Low-set ears, Conductive hearing impai... |
OMIM:102500 |
Hermansky-Pudlak Syndrome |
|
Myopia, Menometrorrhagia, Amblyopia, Ocular albinism, Weight loss, Photophobia, Abnormal optic ne... |
ORPHA:79430 |
Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Lethargy, Thyroid hypoplasia, Goiter |
ORPHA:226316 |
Mast Cell Sarcoma |
|
Weight loss, Hypoplasia of the ear cartilage |
ORPHA:66661 |
Kaposi Sarcoma |
|
Abnormal retinal morphology, Weight loss |
ORPHA:33276 |
Faundes-Banka Syndrome |
|
Premature thelarche, Cryptorchidism, Cupped ear, Microtia, Long ear, Low-set ears, Delayed pubert... |
OMIM:619376 |
Turnpenny-Fry Syndrome |
|
Torticollis, Facial hypotonia, Microtia, Low-set ears, Decreased body weight, Conductive hearing ... |
OMIM:618371 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal pinna morphology, Small for gestational age, Short stature, Hypos... |
OMIM:194190 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Failure to thrive |
OMIM:251110 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Myopia, Failure to thrive in infancy, Decreased response to growth hormone stimulat... |
ORPHA:529962 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Cachexia, Paralysis, Sensorineural hearing impairment, Ophthalmopl... |
ORPHA:2072 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Contracture of the proximal interpha... |
ORPHA:314585 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Abdominal wall muscle weakness, Hypoplasia of penis, Blindness, External genital hypoplasia, Ambl... |
ORPHA:2250 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Hypertonia |
OMIM:253270 |
Pycnodysostosis |
|
Rhizomelia, Decreased response to growth hormone stimulation test, Overweight, Mild conductive he... |
ORPHA:763 |
Campomelic Dysplasia |
|
Myopia, Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Sex reversal... |
OMIM:114290 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Reduced visual acuity |
ORPHA:137599 |
Sotos Syndrome |
|
Hip contracture, Myopia, Astrocytoma, Aganglionic megacolon, Hypospadias, Ankle flexion contractu... |
ORPHA:821 |
Baller-Gerold Syndrome |
|
Myopia, Mixed hearing impairment, Severe short stature, Posteriorly rotated ears, Optic nerve hyp... |
OMIM:218600 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Ovarian neoplasm, Weight loss |
ORPHA:2221 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism |
OMIM:606688 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Short stature, Congenital diaphragmatic hern... |
OMIM:157800 |
Larsen Syndrome |
|
Short stature, Cryptorchidism, Conductive hearing impairment, Intrauterine growth retardation, He... |
OMIM:150250 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Blindness, Generalized muscle weakness, Enlarged lacrimal glands, Weight loss, Enlargem... |
ORPHA:79078 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss, Abnormal skeletal muscle morphology, Nodular goiter, Goiter |
ORPHA:142 |
Hermansky-Pudlak Syndrome 1 |
|
Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness |
OMIM:203300 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Short stature, Camptodact... |
ORPHA:3380 |
Fraser Syndrome 1 |
|
Blindness, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Cupped ear, Bicornuate uterus,... |
OMIM:219000 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short stature, ... |
OMIM:154400 |
Cholera |
|
Lethargy, Muscle weakness |
ORPHA:173 |
Fanconi Anemia |
|
Aganglionic megacolon, Short stature, Hypospadias, Abnormal preputium morphology, External ear ma... |
ORPHA:84 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Lethargy, Thyroid hypoplasia, Goiter |
ORPHA:90673 |
Alveolar Echinococcosis |
|
Ataxia, Pancreatic cysts, Vertigo, Weight loss, Abnormal skeletal muscle morphology, Hemiparesis,... |
ORPHA:284 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Short stature, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Obesity, Growth del... |
ORPHA:353281 |
Riddle Syndrome |
|
Short stature, Ataxia, Weight loss, Clumsiness, Gait disturbance, Otitis media, Poor hand-eye coo... |
ORPHA:420741 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy |
OMIM:123000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Myopia, Torticollis, Mixed hearing impairment, Posteriorly rotated ears, Multiple joint contractu... |
ORPHA:536467 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Bilateral conductive hearing impairment, Tetraparesis |
OMIM:602080 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Cleft Palate, Deafness, And Oligodontia |
|
Bilateral conductive hearing impairment |
OMIM:216300 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Short stature, Nyctalopia, Flexion contracture, Optic ... |
OMIM:619321 |
Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Short stature, Cryptorchi... |
ORPHA:221120 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Short stature, Cachexia, Myopathy, Abnor... |
ORPHA:109 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Cogan Syndrome |
|
Abnormal vestibular function, Blindness, Vertigo, Sensorineural hearing impairment, Reduced visua... |
ORPHA:1467 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Short stature, Hypospadias, Growth delay, Microtia, Low-set ears, Leth... |
ORPHA:124 |
Mohr Syndrome |
|
Conductive hearing impairment, Short stature |
OMIM:252100 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Myopia, Short stature, Severe conductive hearing impairment, Left ventricular hypertrophy, Tendon... |
ORPHA:230851 |
Pierson Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Blindness, Remnants of the hyaloid vascular system, ... |
OMIM:609049 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Growth delay, Otitis media, Abnormality of visual evoked potentials, Optic nerve compress... |
ORPHA:667 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Blindness, Hypoplasia of penis, Small scrotum, Hypospadias, Am... |
ORPHA:2052 |
Congenital Tufting Enteropathy |
|
Photophobia, Failure to thrive, Optic disc coloboma, Weight loss |
ORPHA:92050 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent tragus, Hypospadias, Cryptorchid... |
OMIM:603457 |
Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness, Hearing impairment |
OMIM:158310 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Abnormality of visual evoked potentials, Delayed... |
ORPHA:3121 |
Distal Deletion 19P |
|
Conductive hearing impairment, Sensorineural hearing impairment, Vaginal hernia, Low-set, posteri... |
ORPHA:96129 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cachexia, Abnormal tragus morphology, Intrauter... |
ORPHA:1133 |
Familial Thrombocytosis |
|
Vertigo, Visual field defect, Paresthesia, Weight loss |
ORPHA:71493 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Recurrent otitis media, Disproportionate short-limb short stature,... |
ORPHA:2502 |
Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy |
ORPHA:93110 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Right ventricular hypertrophy |
ORPHA:1329 |
Microphthalmia, Syndromic 6 |
|
Myopia, Failure to thrive, Blindness, Retinal dystrophy, Posteriorly rotated ears, Uplifted earlo... |
OMIM:607932 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing i... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing i... |
ORPHA:353277 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoo... |
ORPHA:361 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Blindness, Optic nerve dysplasia, Micropenis, Retinal dysplasia, Muscular dystrophy, Spasticity, ... |
OMIM:615287 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Small for gestational age, Abnormal Eustachi... |
ORPHA:199302 |
Corneodermatoosseous Syndrome |
|
Severe short stature, Nyctalopia, Photophobia, Hemeralopia, Hearing impairment |
ORPHA:3194 |
Floating-Harbor Syndrome |
|
Short stature, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Glandular hypospadias, Hype... |
OMIM:136140 |
Short Syndrome |
|
Sensorineural hearing impairment, Severe short stature, Weight loss |
ORPHA:3163 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stat... |
ORPHA:79345 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:79431 |
Lathosterolosis |
|
Bilobate gallbladder, Cerebral atrophy, Growth delay, Ambiguous genitalia, male, Conductive heari... |
OMIM:607330 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Ovarian neoplasm, Weight loss |
ORPHA:83469 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment |
ORPHA:2698 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Ambiguous genitalia, Involuntary movements, Fatigable weakness of skelet... |
ORPHA:284339 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Degcags Syndrome |
|
Failure to thrive, Posteriorly rotated ears, Small for gestational age, Hypospadias, Cryptorchidi... |
OMIM:619488 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Hypopituitarism, Congenital conductive hearing impairment, Cam... |
ORPHA:391474 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Diplopia, Weight loss, Prostate cancer, Abnormal prostate morphology, Uterine n... |
ORPHA:2126 |
Acrodermatitis Enteropathica |
|
Short stature, Weight loss, Photophobia, Failure to thrive, Cerebral cortical atrophy, Visual imp... |
ORPHA:37 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Flexion contracture, Short stature, Sensorineural hearing impairment |
OMIM:215150 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Short stature, Sensorineural hearing impairment, Conductive hearing imp... |
OMIM:300990 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration, Gait disturbance |
ORPHA:183 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Obesity, Low-set ears, Thickened helices, Overfolded helix |
OMIM:608624 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Ataxia, Visual impairment, Weight loss |
ORPHA:35687 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Short stature, Involuntary mov... |
ORPHA:438213 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Camptodactyly of finger, External ear malformation, Low-set ea... |
ORPHA:2136 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Retinal detachment, Blindness, Myopia, Muscle weakness |
OMIM:225400 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Myopia, Failure to thrive, Vaginal neoplasm, Sensorineural hearing impairment, Weight loss, Abnor... |
ORPHA:1018 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Treacher Collins Syndrome 1 |
|
Visual loss, Cryptorchidism, Microtia, Abnormal parotid gland morphology, Atresia of the external... |
OMIM:154500 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Photophobi... |
ORPHA:64 |
17Q11 Microdeletion Syndrome |
|
Blindness, Abnormal central motor function, Short stature, Glioma, Rhabdomyosarcoma, Cerebellar g... |
ORPHA:97685 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Mixed hearing impairment, Ataxia, Small for gestational age, Short s... |
ORPHA:666 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Weill-Marchesani Syndrome 2 |
|
Blindness, Short stature, Proportionate short stature, Elbow flexion contracture, High myopia, Th... |
OMIM:608328 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Poor head control, Spastic tetraparesis, Cerebral atro... |
OMIM:615846 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Lethargy, Failure to thrive, Small for gestational age |
OMIM:557000 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Female hypogonadism, Prominent ear helix, Low-fr... |
ORPHA:740 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:129900 |
Acute Promyelocytic Leukemia |
|
Vertigo, Metrorrhagia, Muscle weakness, Weight loss |
ORPHA:520 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Muscle weakness, Cachexia |
OMIM:175500 |
Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Myopathy, Hypogonadis... |
ORPHA:85450 |
Granulomatosis With Polyangiitis |
|
Sensorineural hearing impairment, Prostatitis, Weight loss, Otitis media, Chronic otitis media, H... |
ORPHA:900 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy, Failure to thrive, Intrauterine growth retardation |
OMIM:617156 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Choroidal n... |
ORPHA:51608 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Conductive hearing impairment, Micropenis, Simp... |
OMIM:201750 |
Acute Monoblastic/Monocytic Leukemia |
|
Progressive hearing impairment, Weight loss |
ORPHA:514 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment, Severe short stature |
OMIM:126550 |
Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia |
ORPHA:1657 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ... |
ORPHA:79098 |
Hereditary Fructose Intolerance |
|
Growth delay, Lethargy |
ORPHA:469 |
Down Syndrome |
|
Aganglionic megacolon, Short stature, Macroglossia, Microtia, Conductive hearing impairment |
OMIM:190685 |
Weill-Marchesani Syndrome 1 |
|
Blindness, Short stature, Proportionate short stature, High myopia |
OMIM:277600 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Proportionate short stature, Weight loss |
ORPHA:171876 |
Orofaciodigital Syndrome Type 2 |
|
Short stature, Central retinal vessel vascular tortuosity, Protruding ear, Hypoplastic male exter... |
ORPHA:2751 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impair... |
ORPHA:2363 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Intrauterine growth retardation, Short stature, Atresia of the ext... |
ORPHA:1393 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Prominent inferior crus of antihelix, Blindness, Cryptorchidism, Flexion contracture, ... |
OMIM:618332 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Brucellosis |
|
Small for gestational age, Abnormality of the peripheral nervous system, Orchitis, Chorea, Epidid... |
ORPHA:1304 |
Feingold Syndrome Type 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature |
ORPHA:391641 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Thymoma |
|
Myositis, Prostate neoplasm, Muscle weakness, Weight loss |
ORPHA:99867 |
Osteoporosis-Pseudoglioma Syndrome |
|
Blindness, Short stature, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congen... |
OMIM:259770 |
Lambert-Eaton Myasthenic Syndrome |
|
Impotence, Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Or... |
ORPHA:43393 |
Majeed Syndrome |
|
Failure to thrive, Flexion contracture, Cachexia, Weight loss |
ORPHA:77297 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Vertigo, Rod-cone dystrophy, Nyctalopia |
OMIM:260920 |
Cerebrocostomandibular Syndrome |
|
Posteriorly rotated ears, Postnatal growth retardation, Elbow flexion contracture, Low-set ears, ... |
OMIM:117650 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Macroglossia, Ectopic thyroid, Lethargy, Thyroid hypoplasia, Goiter |
OMIM:218700 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Decreased female libido, Vertigo, Weight loss, Delayed puberty, Failure ... |
ORPHA:95409 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Limb dystonia, Cerebellar atrophy, Myopia, Amblyopia, Retinal arteriolar tortuosity, Babinski sig... |
OMIM:175780 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Short stature, Cerebral visual impairment, Hype... |
OMIM:618367 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Felty Syndrome |
|
Chronic otitis media, Weight loss |
ORPHA:47612 |
Addison Disease |
|
Hypoparathyroidism, Orthostatic hypotension, Premature ovarian insufficiency, Primary testicular ... |
ORPHA:85138 |
Marburg Hemorrhagic Fever |
|
Dysesthesia, Lethargy, Orchitis |
ORPHA:99826 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the diaphragm, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Al Amyloidosis |
|
Weight loss, Macroglossia, Abnormal autonomic nervous system physiology, Abnormal salivary gland ... |
ORPHA:85443 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Ectopic posterior pituitary, Postnatal growth retardation, Cryptorchidi... |
OMIM:620305 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Short stature, Hypospadias, Cryptorchidis... |
OMIM:619522 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Focal Dermal Hypoplasia |
|
Mixed hearing impairment, Short stature, Diastasis recti, Congenital diaphragmatic hernia, Supern... |
OMIM:305600 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Short stature, Glioma, Rhabdomyosarcoma, Cachexia, Hearing abnormality, ... |
ORPHA:647 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive, Hearing impairment |
OMIM:619377 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Abnormality of reproductive system physiology, Increased ... |
ORPHA:1501 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Pituitary adenoma, Primary hyperparat... |
ORPHA:97289 |
Microphthalmia, Syndromic 1 |
|
Blindness, Aganglionic megacolon, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Optic d... |
OMIM:309800 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Craniosynostosis And Dental Anomalies |
|
Papilledema, Stapes ankylosis, Short stature, Absent malleus, Conductive hearing impairment, Chro... |
OMIM:614188 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Scapular winging, Mixed hearing impairment, Sensorineural he... |
OMIM:272460 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conductive hearing impairment, Supernumerary nipple, Protruding ear |
ORPHA:1071 |
Robinow Syndrome |
|
Mixed hearing impairment, Small scrotum, Small for gestational age, Short stature, Posteriorly ro... |
ORPHA:97360 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Posteriorly rotated ears, Elbow contracture, Hypospadias, Postnatal growth retarda... |
OMIM:304120 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Lysinuric Protein Intolerance |
|
Lethargy, Failure to thrive, Decreased response to growth hormone stimulation test |
ORPHA:470 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Short stature, Skeletal muscle atrophy |
ORPHA:1969 |
Raine Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Short stature, Pro... |
OMIM:259775 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Reduced visual acuity, Weight loss |
ORPHA:100085 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Acrofrontofacionasal Dysostosis 1 |
|
Mixed hearing impairment, Optic atrophy, Short stature |
OMIM:201180 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Short stature, Weight loss, Growth delay, Delayed puberty, Muscle weakness |
OMIM:614162 |
Simple Cryoglobulinemia |
|
Weight loss, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
Carney-Stratakis Syndrome |
|
Weight loss, Tinnitus, Hearing impairment |
ORPHA:97286 |
Polycythemia Vera |
|
Vertigo, Tinnitus, Weight loss |
ORPHA:729 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Mixed hearing impairment, Cupped ear, Low-set ears |
OMIM:615560 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Familial Gestational Hyperthyroidism |
|
Goiter, Thyroid hyperplasia, Hand tremor, Weight loss |
ORPHA:99819 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Retinal hemorrhage, Weight loss |
OMIM:608710 |
Wolman Disease |
|
Growth delay, Cachexia |
ORPHA:75233 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Weight loss |
ORPHA:1332 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Vulval varicose vein, Weight loss, Abnormal a... |
ORPHA:71273 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Low-s... |
ORPHA:306542 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Short stature, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pr... |
ORPHA:90794 |
Plasminogen Deficiency, Type I |
|
Blindness |
OMIM:217090 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Sensorineural hearing impairment, Cachexia |
ORPHA:3217 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Myopia, Thymus hyperplasia, Cachexia,... |
ORPHA:744 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Weight loss |
ORPHA:90362 |
Microsporidiosis |
|
Myositis, Cachexia, Visual loss, Abnormality of the parathyroid gland, Abnormal endometrium morph... |
ORPHA:2552 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Muscle weakness, Weight loss |
ORPHA:93672 |
Hepatoerythropoietic Porphyria |
|
Blindness, Paresthesia |
ORPHA:95159 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Stevens-Johnson Syndrome |
|
Photophobia, Dyspareunia, Visual impairment, Weight loss |
ORPHA:36426 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Fructose Intolerance, Hereditary |
|
Lethargy, Failure to thrive |
OMIM:229600 |
Multiple Myeloma |
|
Generalized muscle weakness, Paresthesia, Weight loss |
ORPHA:29073 |
Toxic Epidermal Necrolysis |
|
Photophobia, Visual loss, Abnormal vagina morphology, Weight loss |
ORPHA:537 |
Pulmonary Alveolar Microlithiasis |
|
Decreased fertility, Weight loss, Fatigable weakness, Gonadal calcification, Testicular microlith... |
ORPHA:60025 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Sarcoidosis |
|
Blindness, Facial palsy, Proximal muscle weakness, Abnormal reproductive system morphology, Enlar... |
ORPHA:797 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Enlarged lacrimal glands, Weight loss, Photophobia, Chorioretinitis, Abnormal s... |
OMIM:181000 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... |
ORPHA:2298 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele |
ORPHA:49041 |
Eisenmenger Syndrome |
|
Lethargy, Vertigo, Muscle weakness |
ORPHA:97214 |
Marfan Syndrome |
|
Retinal detachment, Myopia, Skeletal muscle atrophy, Cachexia, Slender build, Visual impairment |
ORPHA:558 |
Senior-Loken Syndrome 3 |
|
Visual loss, Congenital blindness |
OMIM:606995 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Seckel Syndrome |
|
Short stature, Cachexia, Abnormal earlobe morphology, Intrauterine growth retardation, Absent ear... |
ORPHA:808 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Micropenis, Short stature, Hypospadias, Weight loss |
OMIM:613673 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Weight loss |
ORPHA:97287 |
Congenital Erythropoietic Porphyria |
|
Blindness, Paresthesia |
ORPHA:79277 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Q Fever |
|
Muscle weakness, Weight loss |
ORPHA:781 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Hemeralopia, Weight loss |
ORPHA:309031 |
Postinfectious Vasculitis |
|
Retinal vasculitis, Weight loss, Orchitis, Abnormality of the peripheral nervous system |
ORPHA:48435 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Blindness, Visual loss, Depression, Photophobia, Vaginal stricture, Va... |
ORPHA:95455 |
Primary Sclerosing Cholangitis |
|
Depression, Weight loss, Generalized amyotrophy, Neoplasm of the gallbladder, Cholelithiasis |
ORPHA:171 |
Vipoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Respiratory insuffic... |
ORPHA:97282 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Ataxia, Weight loss |
ORPHA:50918 |
Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Amblyopia, Sensorineural hearing impairment, Anotia, Microtia, ... |
OMIM:164210 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Mild postnatal growth retardation, Weight loss |
ORPHA:85408 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Nocardiosis |
|
Chorioretinitis, Scotoma, Weight loss |
ORPHA:31204 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mixed hearing impairment, Absent nipple, Absent external genitalia, Large earlo... |
ORPHA:1299 |
Glucagonoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:97280 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Caroli Disease |
|
Cholelithiasis, Weight loss |
ORPHA:53035 |
Pyomyositis |
|
Myositis, Testicular teratoma, Weight loss |
ORPHA:764 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Malt Lymphoma |
|
Visual impairment, Weight loss |
ORPHA:52417 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Freckled genitalia, Short stature, Low-set ears |
ORPHA:79076 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:97278 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:97261 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy, Impotence |
ORPHA:447 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Rat-Bite Fever |
|
Parotitis, Tendonitis, Weight loss |
ORPHA:31205 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
Dermatomyositis |
|
Inflammatory myopathy, Proximal muscle weakness, Weight loss |
ORPHA:221 |
Somatostatinoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:97283 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Ovarian carcinoma, Weight loss |
ORPHA:1333 |
Chronic Graft Versus Host Disease |
|
Phimosis, Flexion contracture, Weight loss, Photophobia, Abnormal vagina morphology, Muscle weakness |
ORPHA:99921 |
Reactive Arthritis |
|
Photophobia, Weight loss |
ORPHA:29207 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Muscle weakness, Weight loss |
ORPHA:3337 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight ... |
ORPHA:103918 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent otitis media, Anoperineal fistula, Cholesteatoma, Weight loss |
OMIM:619381 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Prostatitis, Weight loss |
ORPHA:449395 |
Pancreatoblastoma |
|
Pancreatic calcification, Weight loss |
ORPHA:677 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Weight loss |
OMIM:301074 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Coronal hypospadias, C... |
OMIM:149730 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Myocardial calcification |
ORPHA:75565 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |