Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Cerebellar Ataxia And Albinism |
|
Albinism, Head tremor, Olivopontocerebellar atrophy, Ataxia |
OMIM:258300 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Neurofibrillary tan... |
OMIM:137440 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Spastic tetr... |
OMIM:618174 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... |
OMIM:610217 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Microcephaly, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spastic... |
OMIM:619742 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of... |
ORPHA:33445 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Trun... |
ORPHA:94122 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, ... |
OMIM:615889 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Hypoplasia of the c... |
OMIM:616948 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Polymicrogyria |
OMIM:615771 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Diffuse swelling of cerebral white matter, Ataxia, Cerebral atrophy, Cerebellar atrop... |
OMIM:613925 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... |
OMIM:600143 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Microcephaly, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:614322 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Iron accumulation in substantia nigra, Reti... |
OMIM:619389 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar atrophy, Progressive microcep... |
OMIM:613402 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... |
OMIM:615362 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... |
OMIM:610245 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Hypoplasia of the corpus callosum, Spast... |
OMIM:617916 |
Gordon Holmes Syndrome |
|
Ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:212840 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:616187 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy |
OMIM:618876 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Gait disturbance, Ataxia, Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1178 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615705 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Thick eyebrow, Limb ataxia, Dysmetria, Intention tremor, Ce... |
OMIM:616127 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal cerebellum morphology, Ataxia, Action tremor, Cerebral atrophy, Poor fine motor coordina... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Leukoencephalopathy, Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebella... |
OMIM:618387 |
Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Cerebral cortical atrophy, Resting tremor, Abnormal pyramidal sign, Parkinsonism, Rigid... |
OMIM:616840 |
Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Myoclonus, Babinski sign, Neurofibrillary tangles, Gait disturbance, A... |
OMIM:607822 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Myoclonus, Parkinsonism, Neurofibrillary tangles, ... |
ORPHA:1020 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy, Neurofibrillary tangles |
OMIM:619132 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Hirsutism, Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia, Hypoplasia of the corpus callosu... |
OMIM:610185 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... |
ORPHA:423275 |
Alzheimer Disease 9, Susceptibility To |
|
Senile plaques, Cerebral cortical atrophy, Hippocampal atrophy, Neurofibrillary tangles, Abnormal... |
OMIM:608907 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... |
OMIM:615768 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Athetosis, Silver-gray hair, Spasticity, Dandy-Walker malformation |
OMIM:257800 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... |
OMIM:616053 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneration, Abnormal pyramidal si... |
OMIM:614298 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Neurodegeneration, Pigmentary retinopathy, Cerebellar atrophy |
OMIM:610951 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Cerebral calcification, Intention tremor, Tremor by anato... |
ORPHA:101110 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Leukoencephalopathy, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Cerebel... |
ORPHA:314603 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... |
OMIM:617225 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... |
OMIM:617672 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Hypoplasia of the corpus callosum, Gait disturbance, Trem... |
OMIM:618090 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus |
OMIM:125370 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity, Cerebellar at... |
OMIM:210000 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Parkinsonism, Neurofibrillary... |
OMIM:607485 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukoencephalopathy, Abnormal cerebellum morphology, Ataxia, Babinski sign, Difficulty walking, S... |
OMIM:618242 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Senile plaques, Cerebral cortex with spongiform changes, Neurofibrillary tangles |
OMIM:605055 |
Infantile Cerebellar-Retinal Degeneration |
|
Failure to thrive, Ataxia, Cerebral cortical atrophy, Decreased body weight, Microcephaly, Hypopl... |
OMIM:614559 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Hypoplasia of the corpus callosum, Tremor, Spasticity, Cere... |
OMIM:616494 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neuronal autofluorescent ... |
OMIM:256731 |
Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Leukoencephalopathy, Ataxia, Failure to thrive, Dysmetria, Spasticity, Cerebellar atrophy, Second... |
OMIM:617954 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:610743 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Cerebral atrophy, Distal sensory impairment, Cerebellar atrophy, Steppage gait |
OMIM:607250 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Niemann-Pick Disease, Type C1 |
|
Neuronal loss in central nervous system, Ataxia, Cataplexy, Neurofibrillary tangles, Gait ataxia,... |
OMIM:257220 |
Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... |
OMIM:619054 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Spinocerebellar Ataxia 49 |
|
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... |
OMIM:619806 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Hypoplasia... |
OMIM:612319 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal cerebellum morphology, Abnormal pons morphology, Ataxia, Progressive cerebellar ataxia, ... |
ORPHA:98 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Hirsutism, Ataxia, Cerebral atrophy, Abnormal pyramidal sign, Hypoplasia of the corpus callosum, ... |
ORPHA:527497 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Cerebellar hypoplasia, Polymicrogyria, Gait disturbance, Spasticity, Pachygyria |
OMIM:616654 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... |
OMIM:618088 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hypertonia, Ataxia, Cerebral atrophy, Microcephaly, Myoclonus, Spasticity, Cer... |
OMIM:618426 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Abnormal cerebellum morphology, Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... |
OMIM:618317 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
Alzheimer Disease 2 |
|
Parkinsonism, Neurofibrillary tangles |
OMIM:104310 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Intention tremor, Neurofibrillary tangles, Spasticity, Cerebral amyloid angiopathy |
OMIM:117300 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Bradykinesia, ... |
OMIM:601104 |
Alzheimer Disease, Familial, 1 |
|
Parkinsonism, Neurofibrillary tangles |
OMIM:104300 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dys... |
OMIM:607136 |
Adult-Onset Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... |
ORPHA:199351 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Neuronal loss in central nervous system, Akinesia, Bradykinesia, Retrocollis, Gra... |
OMIM:609454 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy |
OMIM:616267 |
Ataxia-Pancytopenia Syndrome |
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Ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, ... |
OMIM:159550 |
Spinocerebellar Ataxia 48 |
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Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Limb... |
OMIM:117360 |
Spinocerebellar Ataxia Type 29 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
Waardenburg Syndrome, Type 2A |
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Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Griscelli Syndrome, Type 2 |
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Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Spinocerebellar Ataxia 5 |
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Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... |
OMIM:600224 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
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Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... |
ORPHA:1170 |
Spinocerebellar Ataxia Type 19/22 |
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Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
Spinocerebellar Ataxia 42 |
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Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
Spinocerebellar Ataxia 34 |
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Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... |
OMIM:133190 |
Niemann-Pick Disease, Type C2 |
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Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity |
OMIM:607625 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
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Hirsutism, Low anterior hairline, Thick eyebrow, Sparse hair, Ataxia, Cerebellar hypoplasia, Part... |
OMIM:616819 |
Spastic Paraplegia 39, Autosomal Recessive |
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Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... |
OMIM:612020 |
Alzheimer Disease 4 |
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Apraxia, Senile plaques, Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:606889 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Failure to thrive, Ataxia, Cerebral cortical atrophy, Hypertonia, Cerebral cal... |
ORPHA:3322 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Uncombable Hair Syndrome 1 |
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Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:614229 |
Woolly Hair, Autosomal Dominant |
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Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Spinocerebellar ataxia 27 |
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Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Gait ataxia, Cere... |
OMIM:609307 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Autosomal Spastic Paraplegia Type 58 |
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Babinski sign, Chorea, Abnormal cerebral white matter morphology, Tremor, Spasticity, Unsteady ga... |
ORPHA:397946 |
Spastic Paraplegia 79, Autosomal Recessive |
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Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... |
OMIM:615491 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Spinocerebellar Ataxia 15 |
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Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Abnormal pons morphology, Cereb... |
ORPHA:1320 |
Oculocutaneous Albinism Type 3 |
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Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Waardenburg Syndrome Type 2 |
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Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Primary Progressive Freezing Gait |
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Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... |
ORPHA:75567 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
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Failure to thrive, Ataxia, Sparse hair, Alopecia, Microcephaly, Cerebellar hypoplasia, Abnormalit... |
OMIM:616353 |
Albinism, Oculocutaneous, Type Ii |
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Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Albinism-Deafness Syndrome |
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Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Boucher-Neuhauser Syndrome |
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Ataxia, Spinocerebellar atrophy, Intention tremor, Gait ataxia, Abnormal upper motor neuron morph... |
OMIM:215470 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron morphology, Waddling gait, Ub... |
ORPHA:52430 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Piebald Trait-Neurologic Defects Syndrome |
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Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Waisman Syndrome |
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Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait, Lewy bodies, Megal... |
OMIM:311510 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Spinocerebellar Ataxia 32 |
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Ataxia, Cerebellar atrophy |
OMIM:613909 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
Parkinson Disease, Late-Onset |
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Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tr... |
OMIM:168600 |
Parkinson Disease 8, Autosomal Dominant |
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Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... |
OMIM:607060 |
Epilepsy, Progressive Myoclonic, 10 |
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Ataxia, Progressive cerebellar ataxia, Lafora bodies, Myoclonus, Spasticity, Spastic tetraplegia,... |
OMIM:616640 |
Waardenburg Syndrome, Type 4A |
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Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Piebald Trait |
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Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Spinocerebellar Ataxia Type 8 |
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Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop... |
ORPHA:98760 |
Hereditary Late-Onset Parkinson Disease |
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Parkinsonism with favorable response to dopaminergic medication, Cerebral cortical atrophy, Akine... |
ORPHA:411602 |
Parkinsonian-Pyramidal Syndrome |
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Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... |
ORPHA:171695 |
Gillespie Syndrome |
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Ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Thin corpus callosum, Postural tremor, Slurred... |
OMIM:206700 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
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Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Lewy bodies |
OMIM:614251 |
Parkinson Disease 21 |
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Bradykinesia, Rigidity, Parkinsonism, Tremor, Lewy bodies |
OMIM:616361 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Ataxia, Cessation of head growth, Hypopigmentation of the skin, Hypopigmentatio... |
ORPHA:411515 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss, Parkinsonism, Lewy bodies |
OMIM:605543 |
Waardenburg-Shah Syndrome |
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Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Ataxia With Vitamin E Deficiency |
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Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... |
OMIM:277460 |
Early-Onset Lafora Body Disease |
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Spastic tetraparesis, Myoclonus, Ataxia, Lafora bodies |
ORPHA:324290 |
Parkinson Disease 1, Autosomal Dominant |
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Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait... |
OMIM:168601 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Cerebellar atrophy |
OMIM:618541 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Failure to thrive, Ataxia, Inability to walk, Hypopigmentation of hair, Chorea, Focal T2 hyperint... |
ORPHA:70472 |
Piebaldism |
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Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Vogt-Koyanagi-Harada Disease |
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Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
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Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Ataxia-Telangiectasia |
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Failure to thrive, Ataxia, Premature graying of hair, Hypopigmentation of hair, Gait disturbance,... |
ORPHA:100 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Dementia, Lewy Body |
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Parkinsonism, Lewy bodies |
OMIM:127750 |
Microcephaly 29, Primary, Autosomal Recessive |
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Ataxia, Thick eyebrow, Primary microcephaly, Simplified gyral pattern, Enlarged cerebellum |
OMIM:620047 |
Waardenburg Syndrome Type 1 |
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Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Oculocutaneous Albinism |
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Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Angelman Syndrome Due To A Point Mutation |
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Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Cessation of head growth, Hypo... |
ORPHA:411511 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Cessation of head growth, Hypo... |
ORPHA:98794 |
Obesity Due To Prohormone Convertase I Deficiency |
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Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair |
ORPHA:71526 |
Hermansky-Pudlak Syndrome 3 |
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Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Oculocutaneous Albinism Type 2 |
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Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Lafora Disease |
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Erratic myoclonus, Ataxia, Inability to walk, Brain atrophy, Lafora bodies, Myoclonus, Gait distu... |
ORPHA:501 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Classic Phenylketonuria |
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Hemiplegia, Hypertonia, Hypopigmentation of the skin, Cerebral calcification, Microcephaly, Hypop... |
ORPHA:79254 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Ataxia, Ocular albinism, Microcephaly, Hypopigmentation of hair, Abnormal pyramidal sign, Athetos... |
ORPHA:2719 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Vici Syndrome |
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Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Microcephaly, Hypopigmentation ... |
OMIM:242840 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Ermine Phenotype |
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Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Myoclonic Epilepsy Of Lafora |
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Gait disturbance, Myoclonus, Apraxia, Lafora bodies |
OMIM:254780 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Gait imbalance, Broad-based gait, Cessation of head growth, Hypopigmentation of the skin, Hypopig... |
ORPHA:98795 |
Albinism, Oculocutaneous, Type Ia |
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Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Waardenburg Syndrome, Type 4C |
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Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
Chédiak-Higashi Syndrome |
|
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Ataxia, Brain atrophy, Inability t... |
ORPHA:167 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
Squalene Synthase Deficiency |
|
Polymicrogyria, Abnormality of hair pigmentation, Failure to thrive in infancy, Hypoplasia of the... |
OMIM:618156 |
Carney Complex, Type 1 |
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Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Red hair, Fair hair, Blue irides |
OMIM:614613 |
Chediak-Higashi Syndrome |
|
Ataxia, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Neurodegeneratio... |
OMIM:214500 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... |
ORPHA:177901 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Prader-Willi-Like Syndrome |
|
Perisylvian polymicrogyria, Failure to thrive, Small for gestational age, Hypopigmentation of the... |
ORPHA:398073 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Ataxia, Hypopigmentation of hair, Abnormal pyramidal sign, Spasticit... |
ORPHA:163746 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Brittle Cornea Syndrome |
|
Gait disturbance, Abnormality of hair pigmentation |
ORPHA:90354 |
Syndromic Diarrhea |
|
Woolly hair, Brittle hair, Generalized hypopigmentation, Small for gestational age, Hypopigmentat... |
ORPHA:84064 |
Short Stature-Micrognathia Syndrome |
|
Failure to thrive, Microcephaly, Decreased body weight, Gait ataxia |
OMIM:617164 |