Autism, Susceptibility To, 20 |
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Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
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Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Asperger Syndrome, Susceptibility To, 1 |
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Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Hsd10 Disease |
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Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal social behavior, Depressed nasal bridge, Compu... |
ORPHA:444002 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia, Broad nasal tip, Optic atrophy, Abnormal temper tantrums, Abnormal social ... |
ORPHA:530983 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Agitation, Ataxia, Disinhibition |
ORPHA:1020 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Emotional lability, ... |
ORPHA:309263 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Wide nose, Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Unsteady gait, Dysmetria,... |
ORPHA:314647 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Difficul... |
ORPHA:309271 |
Prader-Willi Syndrome Due To Translocation |
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Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Head-banging, Lateral ven... |
ORPHA:177907 |
48,Xxxy Syndrome |
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Depressed nasal ridge, Irritability, Attention deficit hyperactivity disorder, Abnormal social be... |
ORPHA:96263 |
Fg Syndrome Type 1 |
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Broad-based gait, Choanal atresia, Optic nerve hypoplasia, Prominent nose, Compulsive behaviors, ... |
ORPHA:93932 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Depressed nasal bridge, Anteverted nares, Inability to walk, Irritability, Prominent nasal tip, A... |
ORPHA:1675 |
Mend Syndrome |
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Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Aggressive behavior, ... |
ORPHA:401973 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Niemann-Pick Disease Type C |
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Ataxia, Aggressive behavior, Depression, Progressive gait ataxia, Gait disturbance, Disinhibition... |
ORPHA:646 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Optic atrophy,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Optic atrophy,... |
ORPHA:363958 |
Williams Syndrome |
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Ataxia, Wide nasal bridge, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention def... |
ORPHA:904 |