Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... |
OMIM:615411 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... |
OMIM:611067 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele |
ORPHA:352682 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c... |
OMIM:611890 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Flexion contracture |
OMIM:617201 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabili... |
ORPHA:52430 |
Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria |
OMIM:611603 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Spasticity of facial muscles |
OMIM:606353 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Men... |
ORPHA:101030 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:616437 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... |
ORPHA:1145 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Limb muscle weakness, Syringomyelia, Sp... |
OMIM:207950 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... |
OMIM:253310 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Gray matter heterotopia, EMG: myopathic... |
ORPHA:370980 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:1980 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu... |
OMIM:606070 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Pachygyria, EMG: myopat... |
OMIM:608840 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:105550 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Lower limb muscle weakness |
ORPHA:2590 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot... |
ORPHA:275872 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:2216 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele |
ORPHA:65 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Growth delay |
OMIM:615234 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Abnormality of neuronal migration, Enceph... |
ORPHA:93274 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology |
ORPHA:93941 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Abnormality of neuronal migration, Intrauterine growth retardation, Hy... |
ORPHA:2772 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Muscular dystrophy, Anencephaly, Type II lissencephaly, O... |
OMIM:615287 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Gray matter heterotopia, Hypoglycosylatio... |
ORPHA:370959 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, 4-layered lissencephaly, Patent foramen ovale, Abnormality of neuronal migr... |
ORPHA:89844 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... |
OMIM:205100 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy |
OMIM:608030 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay |
OMIM:500007 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Growth delay, Short stature |
OMIM:615631 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Short stature |
ORPHA:49827 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Syringomyelia, Meningocele |
ORPHA:2481 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Skeletal muscle atrophy |
OMIM:105400 |
Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Hydrocephalus, Gray matter heterotopia, Atrial septal defect |
ORPHA:2655 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... |
ORPHA:7 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia |
OMIM:300049 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Muscular dystrophy, Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia... |
ORPHA:899 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia |
OMIM:164180 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Gray matter heterotopia, Pachygyria, Muscular dystrophy, Polymicrogyria, Type II l... |
OMIM:614643 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
Joubert Syndrome |
|
Hydrocephalus, Polymicrogyria, Situs inversus totalis, Abnormality of neuronal migration, Encepha... |
ORPHA:475 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Flexion contracture, Muscular dystrophy, Polymicrogyria, Abnorma... |
ORPHA:2671 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus, Gray matter heterotopia |
OMIM:219730 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Delayed puberty |
OMIM:600462 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness |
OMIM:601162 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Limb hypertonia, Polymicrogyria, Lissencephaly, Simplified gyral pat... |
OMIM:616212 |
Desmosterolosis |
|
Hydrocephalus, Anomalous pulmonary venous return, Polymicrogyria, Abnormal cortical gyration, Lis... |
ORPHA:35107 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612069 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Pachygyria, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality... |
ORPHA:2211 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia |
OMIM:603671 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Short stature |
OMIM:611590 |
9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Gray matter heterotopia, Abnormal heart morphology |
ORPHA:531151 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Rhabdomyolysis, Abnormality of neuronal migration, Pachygyria, Car... |
ORPHA:157 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Periventricular heterotopia, Atrial septal defect |
OMIM:618974 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Intrauterine growth retardation, Short stature |
OMIM:609053 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly |
OMIM:615219 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Beta-Thalassemia |
|
Skin ulcer, Pallor |
ORPHA:848 |
Leishmaniasis |
|
Skin ulcer, Pallor |
ORPHA:507 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria |
ORPHA:300573 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac... |
ORPHA:276244 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Camptodactyly, Lissencephaly, Arthrogryposis multiplex co... |
OMIM:617822 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor, Intrauterine growth retardation |
OMIM:266200 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Hypoplastic left heart, Situs inversus totalis, Meningocele, Abn... |
ORPHA:991 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Holoprosencephaly, Camptodactyly of finger, Ventricular septal defect, Abno... |
ORPHA:261236 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Camptodactyly of finger, Abnormality of neuronal migration, Pachygyria, Intr... |
ORPHA:2065 |
Primary Myelofibrosis |
|
Pallor, Purpura, Ecchymosis, Petechiae |
ORPHA:824 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Polymicrogyria, Abnormal myocardium morphology, Abnormality of neuronal migration,... |
ORPHA:228308 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Knee flexion contracture, Camptodactyly |
OMIM:619694 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Periventricular heterotopia, Alobar holoprosencepha... |
OMIM:619895 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Encephalocele |
ORPHA:2318 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy |
OMIM:608627 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Periventricular heterotopia |
ORPHA:98892 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Gray matter heterotopia, Atrial septal defect |
ORPHA:1860 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:98375 |
Fragile X Syndrome |
|
Mitral valve prolapse, Periventricular heterotopia |
OMIM:300624 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosence... |
ORPHA:2162 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Gray matter heterotopia, Neonatal death |
OMIM:187600 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Growth delay, Short stature |
OMIM:617675 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Atrioventricu... |
ORPHA:453499 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Elbow... |
ORPHA:79139 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Short stature |
ORPHA:98870 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
ORPHA:803 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Distal arthrogryposis, Hydrocephalus, Intrauterine growth retardation, Periventricular heterotopia |
OMIM:619833 |
Anemia, Sideroblastic, 1 |
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Anemic pallor |
OMIM:300751 |
Tetrasomy 18P |
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Abnormality of neuronal migration |
ORPHA:3307 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Polymicrogyria, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flexion contracture... |
OMIM:608836 |
Hereditary Spherocytosis |
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Skin ulcer, Growth delay, Pallor |
ORPHA:822 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Tay-Sachs Disease |
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Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
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Pallor |
OMIM:605549 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration |
ORPHA:44 |
Autoimmune Hemolytic Anemia, Warm Type |
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Pallor |
ORPHA:90033 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hydrocephalus, Periventricular heterotopia |
OMIM:618476 |
Elliptocytosis 1 |
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Pallor |
OMIM:611804 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Gray matter heterotopia |
OMIM:617008 |
Dominant Beta-Thalassemia |
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Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Joint contracture of the hand, Camptodactyly, Agyria, Lissencephaly, Pac... |
OMIM:247200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gray matter heterotopia, Increased intramyocellular lipid droplets, Rhabdomyolysis, Scapular wing... |
ORPHA:26791 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Pallor, Growth delay |
ORPHA:300298 |
Intellectual Developmental Disorder, X-Linked 12 |
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Abnormality of neuronal migration |
OMIM:300957 |
Coffin-Lowry Syndrome |
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Abnormal mitral valve morphology, Abnormal aortic valve morphology, Abnormality of neuronal migra... |
ORPHA:192 |
Senior-Loken Syndrome 8 |
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Pallor |
OMIM:616307 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Periventricular heterotopia, Atrial septal defect, Ventricular septal defect, Patent foramen oval... |
OMIM:618870 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Gray matter heterotopia, Atrial septal defect, Neonatal death, Ventricular septal defect, Frontal... |
OMIM:620024 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Myelitis, Abnormal muscle fiber dysf... |
ORPHA:1320 |
Hydrolethalus Syndrome 1 |
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Intrauterine growth retardation, Gray matter heterotopia, Anencephaly, Arrhinencephaly, Severe hy... |
OMIM:236680 |
Fumarase Deficiency |
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Pallor |
OMIM:606812 |
Poretti-Boltshauser Syndrome |
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Gray matter heterotopia |
OMIM:615960 |
Radio-Tartaglia Syndrome |
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Ventricular septal defect, Gray matter heterotopia |
OMIM:619312 |
Fructose-1,6-Bisphosphatase Deficiency |
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Pallor |
ORPHA:348 |
Pseudo-Torch Syndrome 2 |
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Gray matter heterotopia, Secundum atrial septal defect, Polymicrogyria |
OMIM:617397 |
Joubert Syndrome 30 |
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Gray matter heterotopia |
OMIM:617622 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Scapular winging, Distal amyotrophy |
OMIM:614298 |
Sepsis In Premature Infants |
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Pallor, Purpura, Petechiae |
ORPHA:90051 |
Childhood Absence Epilepsy |
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Pallor |
ORPHA:64280 |
Opitz-Kaveggia Syndrome |
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Multiple joint contractures, Hydrocephalus, Gray matter heterotopia, Joint contracture of the han... |
OMIM:305450 |
Letterer-Siwe Disease |
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Pallor |
OMIM:246400 |
Vici Syndrome |
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Gray matter heterotopia, Cardiomyopathy |
ORPHA:1493 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:2518 |
Joubert Syndrome With Hepatic Defect |
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Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele |
ORPHA:1454 |
Beta-Thalassemia Major |
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Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
Beta-Thalassemia Intermedia |
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Skin ulcer, Pallor |
ORPHA:231222 |
Plummer-Vinson Syndrome |
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Pallor |
ORPHA:54028 |
Rare Circulatory System Disease |
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Pallor |
ORPHA:98028 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Pallor |
ORPHA:276621 |
Orofaciodigital Syndrome I |
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Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Abnormal he... |
OMIM:311200 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration, Overriding aorta, Tetralogy of Fallot, Holoprosencephaly |
ORPHA:3186 |
Juvenile Amyotrophic Lateral Sclerosis |
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Amyotrophic lateral sclerosis, Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joi... |
ORPHA:300605 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration, Congenital diaphragmatic hernia |
ORPHA:2063 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Atrial septal defect, Flexion contracture, Camptodactyly, Ventricular se... |
OMIM:605039 |
Hereditary Folate Malabsorption |
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Pallor |
ORPHA:90045 |
Waldenström Macroglobulinemia |
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Pallor, Purpura |
ORPHA:33226 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Amyotrophic lateral sclerosis |
OMIM:615911 |
Ane Syndrome |
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Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Pallor |
ORPHA:331206 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Multiple joint contractures, Periventricular heterotopia, Intrauterine growth retardation, Pachyg... |
ORPHA:468631 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Dextrocardia, Periventricular heterotopia, Atrioventricular canal defect |
OMIM:618929 |
Beta-Ketothiolase Deficiency |
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Pallor |
ORPHA:134 |
Prolactinoma |
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Pallor, Delayed puberty |
ORPHA:2965 |
Non-Functioning Pituitary Adenoma |
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Pallor |
ORPHA:91349 |
Imerslund-Gräsbeck Syndrome |
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Pallor |
ORPHA:35858 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Periventricular heterotopia, Intrauterine growth retardation, Pachygyria |
ORPHA:255138 |
Vici Syndrome |
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Gray matter heterotopia, Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, My... |
OMIM:242840 |
Aregenerative Anemia |
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Pallor |
ORPHA:101096 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis |
OMIM:619132 |
Sheehan Syndrome |
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Pallor, Dry skin |
ORPHA:91355 |
Pituitary Apoplexy |
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Pallor |
ORPHA:95613 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Pulmonic stenosis, Ventricu... |
OMIM:610443 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Pallor |
OMIM:194380 |
Adenohypophysitis |
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Pallor |
ORPHA:95512 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Pallor |
ORPHA:98849 |
Van Maldergem Syndrome 1 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... |
OMIM:601390 |
Incontinentia Pigmenti |
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Pallor, Erythema, Short stature |
OMIM:308300 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Pallor |
ORPHA:20 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Pallor |
OMIM:616959 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Pallor |
OMIM:300908 |
Panhypophysitis |
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Pallor |
ORPHA:95513 |
Aicardi Syndrome |
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Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria |
OMIM:304050 |
Man1B1-Cdg |
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Periventricular heterotopia |
ORPHA:397941 |
Hereditary Pheochromocytoma-Paraganglioma |
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Pallor |
ORPHA:29072 |
Bilateral Perisylvian Polymicrogyria |
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Facial diplegia, Bilateral perisylvian polymicrogyria, Flexion contracture, Weakness of facial mu... |
ORPHA:98889 |
Fanconi Anemia, Complementation Group C |
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Anemic pallor, Intrauterine growth retardation, Short stature |
OMIM:227645 |
Arima Syndrome |
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Occipital meningocele, Gray matter heterotopia |
OMIM:243910 |
Cerebrofacioarticular Syndrome |
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Pulmonic stenosis, Gray matter heterotopia, Camptodactyly, Abnormal heart morphology |
ORPHA:314679 |
16Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Periventricular heterotopia, Dilated cardiomyopathy |
ORPHA:261250 |
Refractory Anemia With Excess Blasts |
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Anemic pallor |
ORPHA:86839 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Growth delay, Anemic pallor |
ORPHA:329971 |
Diamond-Blackfan Anemia 1 |
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Pallor, Intrauterine growth retardation, Short stature |
OMIM:105650 |
Alg11-Cdg |
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Limb hypertonia, Gray matter heterotopia |
ORPHA:280071 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Flexion contracture of finger, Aortic valve stenosis, Ventricular septal defect, Abnormality of n... |
ORPHA:464311 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Ventricular septal defect, Gray matter heterotopia, Polymicrogyria, Macroglossia |
OMIM:214100 |
Alternating Hemiplegia Of Childhood |
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Pallor |
ORPHA:2131 |
Orofaciodigital Syndrome Type 6 |
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Abnormality of neuronal migration, Abnormal heart morphology |
ORPHA:2754 |
Orofaciodigital Syndrome Xiv |
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Periventricular heterotopia, Atrial septal defect, Holoprosencephaly, Polymicrogyria, Ventricular... |
OMIM:615948 |
Fontaine Progeroid Syndrome |
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Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Gray matter heterotopia, Periventricu... |
OMIM:612289 |
Degcags Syndrome |
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Pallor, Patent ductus arteriosus, Intrauterine growth retardation |
OMIM:619488 |
Pearson Marrow-Pancreas Syndrome |
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Pallor, Erythema |
OMIM:557000 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Type 1 muscle... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Type 1 muscle... |
ORPHA:352665 |
Congenital Disorder Of Deglycosylation 2 |
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Gray matter heterotopia, Polymicrogyria, Macroglossia |
OMIM:619775 |
Van Maldergem Syndrome 2 |
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Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Fanconi Anemia, Complementation Group E |
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Anemic pallor, Short stature |
OMIM:600901 |
Esophageal Atresia |
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Pallor, Growth delay |
ORPHA:1199 |
Fanconi Anemia, Complementation Group A |
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Anemic pallor, Short stature |
OMIM:227650 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, Intrauterine growth retardation, Gray matter heterotopia, Atrial septal defect, ... |
OMIM:210710 |
Fanconi Anemia, Complementation Group D2 |
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Anemic pallor, Patent ductus arteriosus, Short stature |
OMIM:227646 |
Neuromuscular Oculoauditory Syndrome |
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Muscle fiber necrosis, Periventricular heterotopia, EMG: myopathic abnormalities, Calf muscle hyp... |
OMIM:618733 |
Idiopathic Hypereosinophilic Syndrome |
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Pallor |
ORPHA:3260 |
Tsh-Secreting Pituitary Adenoma |
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Pallor, Delayed puberty |
ORPHA:91347 |
Histiocytoid Cardiomyopathy |
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Pallor |
ORPHA:137675 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Blackfan-Diamond Anemia |
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Pallor, Growth delay, Short stature |
ORPHA:124 |
Autosomal Recessive Malignant Osteopetrosis |
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Pallor, Growth delay |
ORPHA:667 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor |
ORPHA:653 |
Orofaciodigital Syndrome Xvi |
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Gray matter heterotopia |
OMIM:617563 |
Infection-Related Hemolytic Uremic Syndrome |
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Pallor |
ORPHA:544482 |
Genitourinary And/Or Brain Malformation Syndrome |
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Gray matter heterotopia, Polymicrogyria, Holoprosencephaly |
OMIM:618820 |
6Q Terminal Deletion Syndrome |
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Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heterotopia, Polymicr... |
ORPHA:75857 |
Von Hippel-Lindau Disease |
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Pallor |
ORPHA:892 |
Smith-Lemli-Opitz Syndrome |
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Hydrocephalus, Periventricular heterotopia, Atrial septal defect, Holoprosencephaly, Ventricular ... |
OMIM:270400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Pallor |
OMIM:253280 |
Nijmegen Breakage Syndrome |
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Rhabdomyosarcoma, Skeletal muscle atrophy, Abnormality of neuronal migration |
ORPHA:647 |
Periventricular Nodular Heterotopia 9 |
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Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria |
OMIM:618918 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Rhabdomyosarcoma |
OMIM:276300 |
Visceral Steatosis, Congenital |
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Myocardial steatosis, Neonatal death |
OMIM:228100 |
Proteus Syndrome |
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Gray matter heterotopia, Myofibrillar myopathy, Decreased muscle mass, Sirenomelia |
ORPHA:744 |
Goodpasture Syndrome |
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Pallor |
OMIM:233450 |
Genitopatellar Syndrome |
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Hip contracture, Periventricular heterotopia, Atrial septal defect, Ventricular septal defect, Kn... |
OMIM:606170 |
Orofaciodigital Syndrome Type 14 |
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Ventricular septal defect, Periventricular heterotopia |
ORPHA:434179 |
Congenital Total Pulmonary Venous Return Anomaly |
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Pallor, Patent ductus arteriosus |
ORPHA:99125 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Abnormal cardiac septum morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic va... |
ORPHA:2152 |
Homozygous Familial Hypercholesterolemia |
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Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis |
ORPHA:391665 |