| Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria |
|
Mitochondrial lysine transport defect |
OMIM:238710 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Abnormal m... |
OMIM:618378 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... |
ORPHA:2722 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Gait disturbance, Scoliosis, Kyphosis |
OMIM:611225 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Tricarboxylic Acid Cycle, Defect Of |
|
Decreased activity of the pyruvate dehydrogenase complex |
OMIM:275370 |
| Alzheimer Disease 9, Susceptibility To |
|
Memory impairment, Depression, Neurofibrillary tangles, Disinhibition |
OMIM:608907 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Memory impairment, Neurofibrillary tangles, Amyotrophic lateral sclerosis, Frontotemporal dementi... |
OMIM:619132 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Choreoathetosis, Abnormal mitochondrial morphology |
OMIM:300438 |
| Dystonia 31 |
|
Difficulty walking, Abnormal posturing |
OMIM:619565 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Cerebral atrophy, Inability to walk, Lumbar hyperlordosis, Ataxia, Scoliosis, K... |
OMIM:616756 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Hypertrichosis, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Synophrys |
ORPHA:85317 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Decreased activity of mitochondrial complex IV, Decreased activity ... |
OMIM:500013 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia, Scoliosis... |
ORPHA:391411 |
| Flynn-Aird Syndrome |
|
Ataxia, Alopecia, Alopecia of scalp, Kyphoscoliosis |
OMIM:136300 |
| Spastic Paraplegia Type 7 |
|
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Abnormal mitochondr... |
ORPHA:99013 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Dementia, Aggressive behavior, Memory impairment, Neurofibrillary tangles |
OMIM:606688 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Hirsutism, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys |
OMIM:300861 |
| Hypomelanosis Of Ito |
|
Alopecia, Cerebral atrophy, Gray matter heterotopia, Scoliosis, Kyphosis |
OMIM:300337 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair |
ORPHA:1008 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... |
ORPHA:95717 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Tru... |
ORPHA:98764 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Zimmermann-Laband Syndrome 3 |
|
Facial hypertrichosis, Small nail, Hypertrichosis, Long eyelashes, Thick eyebrow, Absent toenail,... |
OMIM:618658 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick eyebrow, Low posterior hairline, Gait disturbance, Thick hair, Scoliosis, Kyphosis, Synophrys |
ORPHA:2429 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Abnormal posturing, Inability to walk, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:128100 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Gait disturbance, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:617404 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Memory impairment, Neurofibrillary tangles, Disinhibition, Polyphagia, Repetitive compulsive beha... |
OMIM:607485 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... |
ORPHA:240094 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
ORPHA:226313 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Difficulty walking, Scoliosis, Kyphosis |
OMIM:617087 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Cerebral atrophy, Difficulty walking, Inability to walk, ... |
OMIM:611890 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Alopecia, Sparse hair, Ataxia |
ORPHA:3363 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis, Abnormal mitochondrial morphology |
ORPHA:275872 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Dementia, Neurofibrillary tangles |
DECIPHER:48 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal posturing, Gait ataxia, Dysmetria, Gait d... |
ORPHA:157941 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:101075 |
| Alzheimer Disease 2 |
|
Dementia, Neurofibrillary tangles |
OMIM:104310 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Neurofibrillary tangles, Confusion, Disinhibition, Dementia, Semantic dementia... |
ORPHA:1020 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Cdkl5-Deficiency Disorder |
|
Difficulty walking, Gait disturbance, Scoliosis, Kyphosis, Synophrys |
ORPHA:505652 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
| N-Acetylglutamate Synthase Deficiency |
|
Confusion, Hypothermia, Cognitive impairment, Failure to thrive |
OMIM:237310 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy |
OMIM:618453 |
| Masa Syndrome |
|
Shuffling gait, Kyphosis, Hyperlordosis, Agenesis of corpus callosum |
OMIM:303350 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Tip-toe gait, Steppage gait, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:615290 |
| Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Long eyebrows, Alopecia, Sparse hair |
OMIM:275400 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Alopecia, Spinal rigidity |
ORPHA:337 |
| Alzheimer Disease, Familial, 1 |
|
Dementia, Neurofibrillary tangles |
OMIM:104300 |
| Flynn-Aird Syndrome |
|
Cerebral cortical atrophy, Alopecia, Ataxia, Scoliosis, Kyphosis |
ORPHA:2047 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:101078 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Dysmetria, Low back pain, Gait disturbance, Gait apraxia, Ataxia, Brain atrophy |
OMIM:600142 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis, Kyphosis |
OMIM:610743 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Failure to thrive, Incr... |
ORPHA:90674 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria |
OMIM:615578 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Baralle-Macken Syndrome |
|
Inability to walk, Global brain atrophy, Kyphosis, Hirsutism |
OMIM:619255 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism |
ORPHA:85288 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Scoliosis, Sparse scalp hair |
ORPHA:2850 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair |
ORPHA:2251 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Cardiomyopathy, Increased mitochondrial number, Palpitations, T-wave inversion, Arrhythmia, Ventr... |
ORPHA:263297 |
| Meningococcal Meningitis |
|
Fever, Increased circulating procalcitonin concentration, Hypothermia, Irritability |
ORPHA:33475 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Cerebral cortical atrophy, Alopecia, Coronal cleft vertebrae, Kyphoscoliosis |
OMIM:215100 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... |
OMIM:271530 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... |
ORPHA:2325 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Kyphosis, Poliosis, Ataxia |
OMIM:141300 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis, Hirsutism |
OMIM:300434 |
| Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Caudate atrophy, Unsteady gait, ... |
OMIM:617435 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Neurodegeneration, Akinesia, Cerebellar atrophy, Cerebral atrophy |
OMIM:300894 |
| Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Broad-based gait, Fine hair, Cerebellar vermis atrophy, Inability to walk, Gait a... |
OMIM:617988 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Cerebral cortical atrophy, Akinesia, Lewy bodies, Neurofibrillary tangles |
OMIM:616840 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Gait disturbance, Kyphosis, Hypertrichosis |
OMIM:614898 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Failure to thrive |
OMIM:245400 |
| Alzheimer Disease 3 |
|
Dementia, Memory impairment, Dysphagia, Neurofibrillary tangles |
OMIM:607822 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:90673 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Abnormal posturing |
ORPHA:216866 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... |
ORPHA:2890 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Cerebellar atrophy, Parietal cortical atrophy, Hypoplasia of the pons, Difficulty walki... |
ORPHA:412057 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Gerstmann-Straussler Disease |
|
Memory impairment, Depression, Neurofibrillary tangles, Emotional lability, Aggressive behavior, ... |
OMIM:137440 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Anonychia, Widow'... |
OMIM:616455 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... |
ORPHA:248 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Scoliosis |
OMIM:615704 |
| Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Limb dysmetria, Upper limb dysmetria, Spastic gait, Scolios... |
OMIM:614409 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia, Thinning of the substantia nigra pars compacta |
OMIM:619911 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:300718 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Diffuse cerebral atrophy, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosis,... |
OMIM:230650 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse h... |
ORPHA:3051 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... |
OMIM:302060 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Hyperlordosis, Pachygyria, Vertebral fusion... |
OMIM:606612 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Waddling gait |
OMIM:618392 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair |
ORPHA:1882 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
| Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Porphyria Cutanea Tarda |
|
Alopecia, Onycholysis, Facial hypertrichosis |
OMIM:176100 |
| Sandhoff Disease |
|
Kyphosis, Ataxia |
ORPHA:796 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia |
OMIM:620007 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Difficulty walking, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Waddling gait |
ORPHA:464282 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Axonal degeneration |
OMIM:618138 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Decreased pyruvate carboxylase activity, Congestive heart failure, ... |
OMIM:229300 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis |
OMIM:609384 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Dysmetria, Abnormality of the cervical spine, Ataxia, Scoliosis, Kyphosis |
ORPHA:48431 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Alopecia, Thoracic kyphoscoliosis |
OMIM:203550 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Platyspondyly, Kyphosis |
ORPHA:2786 |
| Alzheimer Disease 4 |
|
Dementia, Memory impairment, Cognitive impairment, Neurofibrillary tangles |
OMIM:606889 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Loss of ambulation, Ataxia, Unsteady gait, Scoliosis, Kyphosis |
OMIM:618124 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... |
ORPHA:2269 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Scoliosis, Kyphosis, Ataxia |
ORPHA:99014 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Alopecia, Nail dystrophy |
ORPHA:79397 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy, Decreased mitochondrial number |
ORPHA:352447 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Generalized hirsutism |
ORPHA:317 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Cerebral atrophy, Frontal upsweep of hair, Patent ductus arteriosus, Scoliosi... |
OMIM:619797 |
| Postencephalitic Parkinsonism |
|
Abnormal substantia nigra morphology, Camptocormia, Akinesia, Kyphosis |
ORPHA:97349 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria, Low anterio... |
OMIM:614219 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Patent ductus arteriosus, Cerebral atrophy |
OMIM:614857 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polymicrogyria, Akinesia, Hypoplasia of the brainstem, Agenesis of corpus callosum |
OMIM:225790 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Cerebral atrophy, Lewy bodies, Gait ataxia, Substantia nigra gliosis, Loss of amb... |
OMIM:600116 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Alopecia, Agenesis of corpus callosum |
OMIM:164180 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Alopecia of scalp, Vertebral segmentation defect, Low posterior hairli... |
ORPHA:2617 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp |
ORPHA:346 |
| Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Alopecia, Scoliosis, Sparse body hair |
ORPHA:177 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
| Timothy Syndrome |
|
Hypothyroidism, Hypothermia |
OMIM:601005 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Lewy bodies, Ga... |
OMIM:610217 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Gait ataxia, Axonal degeneration, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:88628 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Obesity, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
| Adrenoleukodystrophy |
|
Neurodegeneration, Truncal ataxia, Alopecia, Limb ataxia |
OMIM:300100 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Ck Syndrome |
|
Polymicrogyria, Hyperlordosis, Pachygyria, Scoliosis, Kyphosis |
OMIM:300831 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Senile plaques, Neurofibrillary tangles |
OMIM:605055 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Kyphosis, Cerebral atrophy |
ORPHA:500180 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Lateral ventricle dilatation, Cerebral atrophy, Hirsutism, Low anterior ha... |
OMIM:619244 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... |
ORPHA:2930 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Dilated cardiomyopathy |
OMIM:602541 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis |
OMIM:618237 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
| Srd5A3-Cdg |
|
Cerebellar atrophy, Hypertrichosis, Ataxia, Abnormal sacrum morphology, Kyphosis |
ORPHA:324737 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Kyphosis |
ORPHA:1875 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Gait disturbance, Titubation, Abnormal posturing |
ORPHA:225147 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia, Irritability |
ORPHA:292 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Progressive neurologic deterioration, Hypothermia, Failure to thrive |
OMIM:618329 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Diabetes mellitus, Exaggerated startle response |
ORPHA:3198 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait imbalance, Neuronal loss in cent... |
OMIM:601104 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Scoliosis |
ORPHA:88630 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis |
OMIM:301900 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Central diabetes insipi... |
ORPHA:280195 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Decreased activity of mitochondrial complex I, Mitocho... |
OMIM:618250 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Cerebellar cortical atrophy, Dysdiadochokinesis |
ORPHA:247234 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Thick eyebrow, Thoracolumbar scoliosis, ... |
OMIM:618443 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... |
ORPHA:129 |
| Alexander Disease |
|
Precocious puberty, Depression, Failure to thrive, Hypothermia, Emotional lability, Hypothyroidis... |
ORPHA:58 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail, Kyphosis |
OMIM:313420 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Ane Syndrome |
|
Alopecia, Motor neuron atrophy, Kyphoscoliosis |
ORPHA:157954 |
| Sepsis In Premature Infants |
|
Temperature instability, Fever, Hypothermia, Decreased body weight, Small for gestational age |
ORPHA:90051 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
| Alopecia Totalis |
|
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails |
ORPHA:700 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal vertebral morphology, Cerebral cortical atrophy, Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Neurofibrillary tangles, Akinesia, Gait imbalance, Neuronal loss in central nervous system... |
OMIM:609454 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia, Cerebellar cortical atrophy, Scoliosis, Kyp... |
OMIM:248800 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Difficulty walking, Thick eyebrow, Kyphoscoliosis, Broad nail, Waddling gait, Scoliosis, Kyphosis... |
OMIM:300280 |
| Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis, Short neck, Scoliosis, Sacral dimple |
OMIM:619762 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Tip-toe gait, Difficulty walking, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis, Waddling ... |
OMIM:607155 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Dysmetria, Gait disturbance, Atrophy/Degeneration affecting the brainstem, At... |
ORPHA:88644 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Kyphoscoliosis |
OMIM:612079 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low anterior hairline, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple, Synophrys |
OMIM:615761 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Obesity, Overweight, Small for gestational age |
ORPHA:26793 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Small for gestational age |
OMIM:618775 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Distichiasis, Scoliosis, Kyphosis |
ORPHA:2598 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... |
ORPHA:3253 |
| Kleefstra Syndrome 2 |
|
Thick eyebrow, Scoliosis, Kyphosis |
OMIM:617768 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Akinesia, Cerebellar atrophy, Choreoathetosis |
OMIM:618249 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Irritability |
ORPHA:159 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Brittle hair, Sparse hair, Scoliosis, Kyphosis |
ORPHA:1883 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
OMIM:218700 |
| Monosomy 18P |
|
Low posterior hairline, Alopecia, Kyphoscoliosis, Short neck |
ORPHA:1598 |
| Corticobasal Syndrome |
|
Akinesia, Gait disturbance |
ORPHA:454887 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis, Waddling gait |
OMIM:255200 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ... |
OMIM:612843 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Kyphosis |
OMIM:618393 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Neurodegeneration, Lewy bodies, Loss of ambulation, Abnormal lower motor neur... |
OMIM:614298 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Neurodegeneration, Difficulty walking, Long eyelashes, P... |
OMIM:618476 |
| Atypical Rett Syndrome |
|
Inability to walk, Gait ataxia, Loss of ambulation, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:3095 |
| Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Choreoathetosis |
ORPHA:702 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Lewy bodies, Neuronal loss in central nervous system, Substantia ni... |
OMIM:168600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Polymicrogyria, Cerebellar vermis atrophy, Gait ataxia, Kyphosis, Simplified gyral pattern |
OMIM:300354 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Gait ataxia, Ataxia |
ORPHA:543470 |
| Progressive Supranuclear Palsy |
|
Memory impairment, Depression, Emotional lability, Irritability, Cognitive impairment, Dementia, ... |
ORPHA:683 |
| 4Q21 Microdeletion Syndrome |
|
Long eyelashes, Agenesis of corpus callosum, Generalized hirsutism, Short neck, Scoliosis, Kyphos... |
ORPHA:238750 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Abnormal cervical curvature, Akinesia, Vertebral fusion |
OMIM:253290 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Gait disturbance, Scoliosis, Kyphosis |
ORPHA:2181 |
| Renpenning Syndrome |
|
Thin eyebrow, Alopecia, Abnormal hairshaft morphology |
ORPHA:3242 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Lewy bodies, Amyotrophic lateral sclerosis |
OMIM:619133 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Shuffling gait, Lewy bodies, Akinesia |
ORPHA:411602 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Gait disturbance, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93160 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy, Ataxia |
OMIM:616353 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Weight loss, Fever, Irritability |
ORPHA:635 |
| Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... |
ORPHA:93314 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Vertebral segmentation defect, Abnormal toenail morphology, Sparse hair, Scoliosis, Kyp... |
ORPHA:1005 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia, Scoliosis |
ORPHA:994 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Primary Progressive Freezing Gait |
|
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Gait imbalance, Lewy bodies |
ORPHA:75567 |
| Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Gait disturbance, Kyphosis |
ORPHA:85193 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability, Emotional lability, Irritability |
OMIM:608643 |
| Bresek Syndrome |
|
Alopecia, Scoliosis, Hemivertebrae |
ORPHA:85284 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Tremor, Cerebellar hypoplasia, Exagger... |
OMIM:620327 |
| Niemann-Pick Disease, Type C1 |
|
Gait ataxia, Neurofibrillary tangles, Neuronal loss in central nervous system, Ataxia |
OMIM:257220 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
| Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... |
ORPHA:79153 |
| Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair |
ORPHA:69735 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Ataxia |
OMIM:275630 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Highly arched eyebrow, Thick eyebrow, Scoliosis, Kyphosis |
OMIM:615834 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis |
OMIM:614564 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Lateral ventricle dilatation, Sacral dimple, Hypoplastic to... |
ORPHA:544488 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
| Idiopathic Camptocormia |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Lewy bodies, Abnormal pons morphology, Abnormal ... |
ORPHA:1320 |
| Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hypothermia... |
ORPHA:488632 |
| Fibrodysplasia Ossificans Progressiva |
|
Progressive cervical vertebral spine fusion, Alopecia, Scoliosis, Small cervical vertebral bodies |
OMIM:135100 |
| Incontinentia Pigmenti |
|
Cerebral cortical atrophy, Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple,... |
ORPHA:464 |
| Manganese Poisoning |
|
Akinesia, Gait disturbance |
ORPHA:306682 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Gait disturbance, Ataxia |
OMIM:606693 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial co... |
ORPHA:17 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Weight loss, Hypothermia |
ORPHA:20 |
| Alg1-Cdg |
|
Scoliosis, Kyphosis, Cerebral atrophy, Cerebellar atrophy |
ORPHA:79327 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Mental deterioration, Memory impairment, Failure to thrive, Dementia, Hypothermia, Delirium |
ORPHA:79282 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Exaggerated startle response |
OMIM:618598 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tip-toe gait, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:536516 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Ataxia |
OMIM:601853 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Tremor, Exaggerated start... |
OMIM:618056 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Global brain atrophy, Lewy bodies, Loss of ambulation, Gait disturbance |
OMIM:168601 |
| Perry Syndrome |
|
Short stepped shuffling gait, Akinesia |
OMIM:168605 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern |
ORPHA:1867 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Spina bifida occulta, Scoliosis, Kyphosi... |
OMIM:618291 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy |
OMIM:242300 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Sparse hair, Cerebral atrophy, Fragile nails |
OMIM:242150 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
| Rett Syndrome |
|
Cerebral cortical atrophy, Gait ataxia, Gait apraxia, Truncal ataxia, Scoliosis, Kyphosis |
OMIM:312750 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Depression, Central hypothyroidism, Fever, Increased circulating prolactin ... |
ORPHA:293987 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Scoliosis, Kyphosis |
ORPHA:352490 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Failure to thrive |
OMIM:251880 |
| Mcdonough Syndrome |
|
Scoliosis, Kyphosis, Synophrys |
ORPHA:2471 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypothermia |
ORPHA:230 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... |
OMIM:607823 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development |
|
Alopecia |
OMIM:242510 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Akinesia, Gait imbalance, Falls |
ORPHA:240071 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Back pain, Spi... |
ORPHA:98855 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An... |
OMIM:253000 |
| Alopecia Universalis |
|
Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail |
ORPHA:701 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity |
OMIM:615084 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Hypoplasia of the pons, Hypoplasia of the brainstem, Low anterior hairline, Patent duct... |
OMIM:619909 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Ba... |
ORPHA:98863 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
| Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... |
OMIM:156530 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis, Cerebellar atrophy |
ORPHA:3085 |
| Leigh Syndrome |
|
Alopecia, Cerebellar atrophy, Hypertrichosis, Agenesis of corpus callosum, Focal T2 hyperintense ... |
ORPHA:506 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... |
ORPHA:2635 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates |
OMIM:234250 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Nail dystrophy, Brittle hair |
ORPHA:75389 |
| Sialidosis Type 2 |
|
Kyphosis, Ataxia |
ORPHA:87876 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Inability to walk, Short neck, Scoliosis, Brain atrophy |
OMIM:301041 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia |
ORPHA:79242 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Ullrich Congenital Muscular Dystrophy |
|
Short neck, Scoliosis, Kyphosis, Spinal rigidity |
ORPHA:75840 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair, Agenesis of corpus callosum |
ORPHA:228390 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Short neck, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of t... |
ORPHA:3082 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Dementia, Temperature instability, Hypothermia, Cognitive impairment |
ORPHA:99027 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Difficulty walking, Alopecia, Central nervous system degeneration, Ataxia |
ORPHA:98907 |
| Typical Nemaline Myopathy |
|
Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Kyphosis, Spinal rigidity |
ORPHA:171436 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis |
OMIM:618234 |
| Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Back pain, Spi... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Back pain, Spi... |
ORPHA:98853 |
| Ethylene Glycol Poisoning |
|
Confusion, Euphoria, Hypothermia |
ORPHA:31826 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... |
OMIM:607326 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Rhizomelic Syndrome, Urbach Type |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal hair quantity |
ORPHA:3098 |
| Sandifer Syndrome |
|
Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cerebral cortical atrophy, Alopecia, Small nail, Absent eyelashes, Absent eyebrow |
ORPHA:166035 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Spinal canal stenosis |
OMIM:618282 |
| Schaaf-Yang Syndrome |
|
Inability to walk, Thick eyebrow, Scoliosis, Kyphosis |
OMIM:615547 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Dysmetria, Head titubation, Ataxia, K... |
OMIM:619708 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:178148 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low posterior hairline, Short neck, Abnormal hair pattern, Spina bifida occulta, Kyphosis, Synophrys |
ORPHA:2983 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Alopecia, Scoliosis |
OMIM:620651 |
| Wieacker-Wolff Syndrome |
|
High anterior hairline, Cerebral atrophy, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:314580 |
| Stiff-Person Syndrome |
|
Opisthotonus, Diabetes mellitus, Exaggerated startle response |
OMIM:184850 |
| Biotinidase Deficiency |
|
Diffuse cerebellar atrophy, Alopecia, Diffuse cerebral atrophy, Ataxia |
OMIM:253260 |
| Sialidosis Type 1 |
|
Abnormal form of the vertebral bodies, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:812 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Low posterior hairline, Alopecia, Broad-based gait, Thoracic scoliosis |
ORPHA:2959 |
| Bathing Suit Ichthyosis |
|
Alopecia, Sparse hair, Nail dystrophy |
ORPHA:100976 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow |
ORPHA:2316 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Sparse eyelashes, Kyphoscoliosis, Pa... |
ORPHA:35173 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Abnormal form of the vertebral bodies, Hirsutism, Generalized hirsutism, Patent du... |
ORPHA:354 |
| Lichen Planopilaris |
|
Abnormal fingernail morphology, Alopecia, Onycholysis |
ORPHA:525 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... |
OMIM:129400 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Coarse hair, Anterior ... |
OMIM:253220 |
| Sjögren-Larsson Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:816 |
| Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Nail dystrophy |
ORPHA:1366 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Kyphosis, Kyphoscoliosis |
OMIM:618484 |
| Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
| Dpagt1-Cdg |
|
Cerebral cortical atrophy, Global brain atrophy, Hypertrichosis, Inability to walk, Akinesia, Ata... |
ORPHA:86309 |
| Gm1-Gangliosidosis, Type I |
|
Hypertrichosis, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Cerebral d... |
OMIM:230500 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Scoliosis, Kyphosis |
OMIM:609541 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Failure to thrive |
ORPHA:255210 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Hypertrichosis, Long eyelashes, Cervical C2/C3 vertebral fusion, Patent du... |
OMIM:617190 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Toenail dysplasia, Cerebellar atrophy, Gait imbalance, Hirsutism, Prominent protruding coccyx, Sh... |
OMIM:300966 |
| Aceruloplasminemia |
|
Akinesia, Limb ataxia, Gait ataxia, Ataxia |
ORPHA:48818 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3454 |
| Niemann-Pick Disease, Type C2 |
|
Dementia, Motor stereotypy, Dysphagia, Neurofibrillary tangles |
OMIM:607625 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology, Gray matter heterotopia, Patent du... |
ORPHA:2655 |
| Trisomy 20P |
|
Platyspondyly, Highly arched eyebrow, Coarse hair, Abnormal form of the vertebral bodies, Thick e... |
ORPHA:261318 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... |
OMIM:183900 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Lumb... |
ORPHA:2232 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Dysdiadochokinesis, Difficulty walking, Pontocereb... |
ORPHA:171629 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... |
ORPHA:94068 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Vici Syndrome |
|
Abnormal posturing, Agenesis of corpus callosum, Albinism, Hypopigmentation of hair, Gray matter ... |
OMIM:242840 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails |
OMIM:261990 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Frontal upsweep of hair, Hirsutism, Low anterior hairline, Patent ductus arteriosu... |
OMIM:617061 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... |
ORPHA:978 |
| Neuroleptic Malignant Syndrome |
|
Delirium, Fever, Hypothermia |
ORPHA:94093 |
| Acrodermatitis Enteropathica |
|
Cerebral cortical atrophy, Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail,... |
ORPHA:37 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes, Hyperlordosis |
ORPHA:3130 |
| Adult-Onset Dystonia-Parkinsonism |
|
Depression, Dysphagia, Neurofibrillary tangles, Frontotemporal dementia |
ORPHA:199351 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degeneration, Gait disturbance, Ataxi... |
OMIM:234200 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Kyphosis |
OMIM:130060 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Broad-based gait, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Ataxia |
ORPHA:453533 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Agenesis of corpus callosum |
OMIM:615433 |
| Macs Syndrome |
|
Scoliosis, Alopecia, Sparse hair, Sparse eyebrow |
OMIM:613075 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
OMIM:313400 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Ataxia, Sparse hair, Nail pits |
OMIM:127550 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Scoliosis, Kyphosis |
OMIM:259440 |
| Arthrogryposis Multiplex Congenita 5 |
|
Short neck, Scoliosis, Akinesia, Kyphoscoliosis |
OMIM:618947 |
| Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Alopecia, Polymicrogyria |
ORPHA:1647 |
| Micro Syndrome |
|
Cerebral cortical atrophy, Generalized hirsutism, Pachygyria, Scoliosis, Kyphosis, Lissencephaly |
ORPHA:2510 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Abnormal form of the vertebral bodies, Sparse eyelashes, Early balding |
ORPHA:2067 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Short neck, Kyphosis |
OMIM:608776 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Hyperlordosis, Scoliosis, Kyp... |
ORPHA:582 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Abnormal fear-induced behavior, Pituitary adenoma, Emotional la... |
OMIM:219090 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Waddling gait, Synophrys, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:620351 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Patent ductus arteriosus, Kyphosis, Abnormality of neuronal migration |
ORPHA:93274 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy... |
ORPHA:2309 |
| Slc35A2-Cdg |
|
Precocious puberty, Abnormal midbrain morphology, Elevated circulating thyroid-stimulating hormon... |
ORPHA:356961 |
| Trisomy 9P |
|
Hypoplastic fingernail, Fingernail dysplasia, Hypoplastic toenails, Short neck, Scoliosis, Kyphos... |
ORPHA:236 |
| Coffin-Lowry Syndrome |
|
Cerebral cortical atrophy, Abnormal form of the vertebral bodies, Hypoplastic fingernail, Hyperco... |
ORPHA:192 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Small nail, Thin nail |
OMIM:242100 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... |
OMIM:177170 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair |
OMIM:607626 |
| Cockayne Syndrome Type 2 |
|
Difficulty walking, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:90322 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:251450 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Sparse scalp hair |
OMIM:137940 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Ataxia |
OMIM:613990 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... |
OMIM:268400 |
| Asparagine Synthetase Deficiency |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Dilated fourth... |
OMIM:615574 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebral cortical atrophy, Patchy alopecia, Sparse hair, Cerebellar atrophy |
OMIM:617763 |
| Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Mitochondrial swelling |
OMIM:606812 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:614594 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Alpha-Mannosidosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:61 |
| Sézary Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:3162 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Thoracic scoliosis, Hirsutism |
ORPHA:79330 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis |
OMIM:300676 |
| Arthrogryposis, Distal, Type 4 |
|
Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis, Kyphosis |
OMIM:609128 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis |
ORPHA:137834 |
| X-Linked Agammaglobulinemia |
|
Alopecia |
ORPHA:47 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair |
OMIM:605676 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
| Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Cervical subluxation, S... |
OMIM:253010 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Kyphoscoliosis |
OMIM:163200 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Alopecia, Sparse hair |
ORPHA:659 |
| Adams-Oliver Syndrome |
|
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail |
ORPHA:974 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Lateral ventricle dilatation, Cerebral atrophy, Difficulty walking, Inability to ... |
ORPHA:464738 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
| Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Subungual hyperkeratosis |
OMIM:300918 |
| Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis, Supernumerary nipple |
ORPHA:64755 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Low posterior hairline, Hypoplastic vertebral bodies, Hemi... |
ORPHA:2916 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158310 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... |
OMIM:230740 |
| Arthrogryposis, Distal, Type 5 |
|
Scoliosis, Kyphosis |
OMIM:108145 |
| Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Thick eyebrow, Spina bifida occulta, Scoliosis, Kyphosis, ... |
ORPHA:3219 |
| Bartsocas-Papas Syndrome |
|
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Ruvalcaba Syndrome |
|
Generalized hirsutism, Scoliosis, Kyphosis, Abnormal vertebral epiphysis morphology |
ORPHA:3121 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Parkinsonian-Pyramidal Syndrome |
|
Shuffling gait, Lewy bodies, Substantia nigra gliosis |
ORPHA:171695 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Abnormal cortical gyration, Cerebral atrophy, Agenesis of corpus callosum, Hy... |
OMIM:311200 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia |
OMIM:608013 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Short neck, Abnormal hair pattern, Scoliosis, Kyphosis, Synophrys |
ORPHA:85293 |
| Dyskeratosis Congenita |
|
Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnormal eyebrow... |
ORPHA:1775 |
| Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Scoliosis, Sparse scalp hair |
OMIM:614008 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Alopecia, Cerebral cortical atrophy, Kyphosis, Abno... |
ORPHA:2273 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Alopecia, Nail dystrophy |
OMIM:175500 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Agenesis of corpus callosum, Sparse hair, Scoliosis, Kyphosis |
OMIM:616449 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyebrow, Punctate vertebral calcifications, Sparse eyelashes, Kyphoscoliosis, Patchy alope... |
OMIM:302960 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Gait imbalance, Ataxia, Truncal ataxia, Scoliosis, Kyphosis |
OMIM:211530 |
| Waisman Syndrome |
|
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