| Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... |
ORPHA:275864 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Mo... |
ORPHA:412066 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... |
ORPHA:401901 |
| Creutzfeldt-Jakob Disease |
|
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... |
OMIM:123400 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... |
OMIM:615483 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Inability to walk, Poor eye contact, Cerebral palsy, Chorea, Spasticity |
OMIM:618557 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Memory impa... |
OMIM:600795 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Depression, Myoclonus, Anxiety, Difficulty walking, Atte... |
OMIM:619191 |
| Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... |
OMIM:603218 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait |
OMIM:614063 |
| Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Gait imbalance, Broad-based gait, Clumsiness, Poor eye contact, Tip-toe gait, Gait ataxia, Involu... |
ORPHA:468620 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Impaired social interactions, Inability to walk, Motor stereotypy |
OMIM:606053 |
| Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Irritabi... |
OMIM:606438 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... |
OMIM:617820 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability |
OMIM:617393 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Diminished motivation, Emotional blunting, Disinhibition, Inappropriate... |
OMIM:172700 |
| Huntington Disease |
|
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Difficulty walkin... |
ORPHA:399 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... |
ORPHA:168782 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Fever, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... |
OMIM:604326 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Depression, Cachexia, Anxiety, Babinski sign, Parkinsoni... |
OMIM:618093 |
| Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Poor eye contact, Decreased body weight, Inappropriate cryin... |
ORPHA:561854 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Inappropriate la... |
OMIM:619150 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... |
ORPHA:248111 |
| Dopa-Responsive Dystonia |
|
Agoraphobia, Fever, Inability to walk, Abnormal social behavior, Depression, Poor coordination, A... |
ORPHA:255 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... |
OMIM:609425 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Hypothermia, Ataxia, Tremor |
ORPHA:29822 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Emotional lability, Limb hypertonia, Ba... |
OMIM:608643 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Poor eye contact, Decreased body wei... |
OMIM:617695 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability, Frontotem... |
OMIM:612069 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dementia |
OMIM:605909 |
| Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Poor eye contact, Inappropriate crying, Hand apraxia, Pill... |
ORPHA:3095 |
| Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
| Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... |
OMIM:613670 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... |
ORPHA:3077 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Hyperactivit... |
OMIM:309548 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... |
ORPHA:66624 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Babinski sign, Tremor, Spasticity, Hypothermia, Hypertonia, Action tremor, Dysmetria, Int... |
ORPHA:99027 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... |
ORPHA:79264 |
| Fraxe Intellectual Disability |
|
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity, Aggr... |
ORPHA:100973 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
| Perry Syndrome |
|
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... |
OMIM:168605 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Poor eye contact, Myoclonus, Anxiety, Tremor |
OMIM:619651 |
| Unilateral Focal Polymicrogyria |
|
Poor fine motor coordination, Mental deterioration, Spastic hemiparesis, Abnormal nonverbal commu... |
ORPHA:268947 |
| Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Spasticity, Aggressi... |
OMIM:610042 |
| Developmental And Epileptic Encephalopathy 15 |
|
Inability to walk, Poor eye contact, Irritability |
OMIM:615006 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Semantic dementia, Abnormal social behavior, Myoclonus, Parkinsonism, Memory ... |
ORPHA:1020 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea |
OMIM:618760 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:397933 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Cognitive impairment, Depression, Spastic paraparesis, Dysdiadoc... |
OMIM:615157 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... |
OMIM:618218 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... |
OMIM:619725 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior, Spasticity |
OMIM:300983 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... |
ORPHA:36899 |
| Posterior Cortical Atrophy |
|
Ataxia, Anxiety, Memory impairment, Speech apraxia, Limb apraxia, Oculomotor apraxia, Inertia |
ORPHA:54247 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity, ... |
OMIM:618718 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Mental dete... |
OMIM:300623 |
| Riboflavin Deficiency |
|
Hypothermia, Lethargy |
OMIM:615026 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
| Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... |
ORPHA:391417 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... |
ORPHA:282166 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Gait ataxia, Emotio... |
ORPHA:71517 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability |
ORPHA:500545 |
| Cln5 Disease |
|
Ataxia, Inability to walk, Poor gross motor coordination, Clumsiness, Dysmetria, Hyperactivity, M... |
ORPHA:228360 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability |
OMIM:619717 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Small for gestational age, Stereotypical... |
OMIM:614104 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Lethargy |
OMIM:610006 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Young-Onset Parkinson Disease |
|
Gait imbalance, Apathy, Impulsivity, Bradykinesia, Cognitive impairment, Depression, Anxiety, Pan... |
ORPHA:2828 |
| Cdkl5-Deficiency Disorder |
|
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Inappropriat... |
ORPHA:505652 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Failure to thrive, Inability to walk, Depression, Anxiety, Progressive spastici... |
DECIPHER:45 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... |
OMIM:618917 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... |
ORPHA:444002 |
| Alexander Disease |
|
Hypothermia, Ataxia, Failure to thrive, Self-injurious behavior, Depression, Abnormal pyramidal s... |
ORPHA:58 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Inability to walk, Cortical myoclonus, Hyperactivity, Mental deteriorat... |
ORPHA:168491 |
| Spinocerebellar Ataxia Type 29 |
|
Ataxia, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delay... |
ORPHA:208513 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioration, Self-mutilation, Men... |
ORPHA:163681 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Memory impairment... |
OMIM:137440 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Anxiety, Bradykinesia, Attention deficit hyperactivity disorder |
OMIM:618878 |
| Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... |
ORPHA:309271 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Lethargy |
ORPHA:95717 |
| Progressive Non-Fluent Aphasia |
|
Mental deterioration, Depression, Abnormality of extrapyramidal motor function, Anxiety, Parkinso... |
ORPHA:100070 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Failure to thrive, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional... |
ORPHA:927 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
| Developmental And Epileptic Encephalopathy 44 |
|
Failure to thrive, Poor eye contact, Athetosis, Spasticity, Irritability |
OMIM:617132 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... |
ORPHA:457240 |
| Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
| Meningococcal Meningitis |
|
Hypothermia, Fever, Irritability, Lethargy |
ORPHA:33475 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability |
OMIM:615828 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypothermia, Abnormality of temperature regulation, Fever, Inability to walk, Unsteady gait, Obesity |
OMIM:618493 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Failure to thrive, Poor eye contact, Progressive neurologic deterioration, Spasticity |
OMIM:618329 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Bradyphrenia, Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Memory... |
ORPHA:136 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Anxiety, Parkinsonism, Self-mutilation of tongue and lips due to inv... |
OMIM:200150 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Impulsivity, Hyperactivity, Depression, Chorea, Spasticity |
ORPHA:88616 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Cognitive impairment, Depression, Anxiety, Suicidal ideation, Involuntary movem... |
ORPHA:98784 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:615516 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal, ... |
OMIM:615032 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... |
ORPHA:309263 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Fever, Apathy, Ataxia, Spastic hemiparesis, Myoclonus, Spasticity, Weight loss, Leth... |
ORPHA:20 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Recurrent hand flapping... |
OMIM:619580 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... |
OMIM:617807 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Motor stereotypy, Recurrent hand flapping, Hyperactivity, Cerebral palsy, Anxiety,... |
OMIM:617600 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior |
ORPHA:101039 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Failure to thrive |
OMIM:245400 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Hyperactivi... |
ORPHA:449291 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... |
ORPHA:3198 |
| Christianson Syndrome |
|
Conspicuously happy disposition, Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Inappro... |
ORPHA:85278 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Myoclonus |
ORPHA:168593 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig... |
ORPHA:177910 |
| Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Heat intoleran... |
ORPHA:411511 |
| Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300495 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Memory impairment |
ORPHA:163921 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Hyperactivity, Aggressive behavior |
OMIM:615541 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Hyperactivity,... |
ORPHA:98794 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Ataxia, Dysmetria, Gait apraxia, Anxiety, Babinski sign, Rigidity, Abnormal pyramidal sign, Gait ... |
OMIM:600142 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Disinhibition, Hyper... |
OMIM:607485 |
| Permanent Congenital Hypothyroidism |
|
Hypothermia, Tetraplegia |
ORPHA:226292 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity, Poor eye contact |
OMIM:613886 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Inability to walk, Poor eye contact, Decreased body weight, Depression,... |
OMIM:300260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Conspicuously happy disposition, Failure to thrive, Ataxia, Hypertonia, Self-injurious behavior, ... |
OMIM:300986 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Failure to thrive, Clumsiness, Depression, Attention deficit hyperactivity disorder,... |
ORPHA:90674 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
| Menkes Disease |
|
Hypothermia, Babinski sign, Hypertonia |
OMIM:309400 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Lethargy |
ORPHA:95716 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Cerebral palsy, Attention... |
ORPHA:352490 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Attention deficit... |
ORPHA:64280 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Ataxia, Failure to thrive, Poor fine motor coordination, Mental deterioration, Memor... |
ORPHA:79282 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Self-injurious behavior |
OMIM:619690 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Hypothermia |
ORPHA:226313 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... |
ORPHA:309256 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Apathy, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resting tremo... |
ORPHA:227510 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Impaired social interactions, No social interaction, Aggressive behavior |
ORPHA:329249 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Hand-leading gestures, Recurrent hand flapping, Tics, Aggressive behavior, Att... |
OMIM:617788 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior, Spasticity |
OMIM:300978 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Irritability, Lethargy |
ORPHA:159 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... |
OMIM:618342 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Inability to walk, Bipolar affective disorder, Cognitive impairment |
ORPHA:488632 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Impaired social int... |
ORPHA:544254 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Failure to thrive, Hypertonia, Motor stereotypy, Gait disturbance, Speech aprax... |
OMIM:300352 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypothermia, Fever, Failure to thrive, Ataxia, Hypertonia, Chorea, Gait ataxia, Spasticity |
ORPHA:255210 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Loss of ambulation, Mental deterioration, Depression, Anxiety, Falls, Progressive extrapyramidal ... |
ORPHA:329308 |
| Congenital Enterovirus Infection |
|
Hypothermia, Fever, Irritability |
ORPHA:292 |
| Congenital Hypothyroidism |
|
Depression, Hypothermia, Anxiety |
ORPHA:442 |
| Cri-Du-Chat Syndrome |
|
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Hyperactivity, S... |
OMIM:123450 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypothermia, Failure to thrive, Hypertonia, Myoclonus, Hyperkinetic movements, Choreoathetosis, A... |
ORPHA:17 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Speech apraxia, Motor stereotypy, Unsteady gait |
OMIM:618205 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
| Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Abnormal social behavior, Upper motor neuron dysfunction |
ORPHA:530983 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Poor eye contact, Tip-toe gait, Stereotypical body rocking, Depression, Anxiety, Sel... |
ORPHA:293939 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
| Niemann-Pick Disease Type C |
|
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Lower limb spa... |
ORPHA:646 |
| Ethylene Glycol Poisoning |
|
Hypothermia, Ataxia, Euphoria, Myoclonus, Slurred speech |
ORPHA:31826 |
| Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Poor eye contact, Hyperactivity, Opisthotonus, Self-mutilation... |
OMIM:103050 |
| 2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter |
ORPHA:228402 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Failure to thrive, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotyp... |
OMIM:300912 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Small for gestational age, Obesity, Overweight, Lethargy |
ORPHA:26793 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Failure to thrive |
OMIM:251880 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Hypertonia, Anxiety, Babinski sign, Gait disturbance, Difficulty walking, Speec... |
ORPHA:79244 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact |
ORPHA:411986 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bradykinesia, Dysmetria, Depression, Intention tremor, Anxiety, Parkinsonism, Rigidity, M... |
ORPHA:93256 |
| Fragile X Syndrome |
|
Hyperactivity, Poor eye contact, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| 48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder, ... |
ORPHA:10 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:301029 |
| Rett Syndrome |
|
Gait apraxia, Cachexia, Truncal ataxia, Stereotypical hand wringing, Motor deterioration, Gait at... |
OMIM:312750 |
| Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
| Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... |
OMIM:613454 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... |
OMIM:619121 |
| Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Blue irides, Hypospadias, Cryptorchidism, Red hair |
OMIM:614613 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Agg... |
ORPHA:313892 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
OMIM:615637 |
| Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... |
ORPHA:778 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... |
OMIM:606324 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:617044 |
| Stiff-Person Syndrome |
|
Agoraphobia, Fever, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, My... |
OMIM:184850 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Anxiety, Oromotor apraxia, Attention deficit hyperactivity disorder, Spasticit... |
ORPHA:391372 |
| Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Poor eye co... |
ORPHA:72 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F... |
ORPHA:2221 |
| Neuroleptic Malignant Syndrome |
|
Hypothermia, Fever, Extrapyramidal muscular rigidity, Anxiety, Chorea, Tremor |
ORPHA:94093 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent fever, Hypothermia, Impulsivity, Hyperactivity, Self-mutilation, Abnormal emotion/affec... |
ORPHA:642 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Radio-Tartaglia Syndrome |
|
Gait imbalance, Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Attention defici... |
OMIM:619312 |
| Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
| Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Anxiety, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
| Potocki-Lupski Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Poor eye contact, Small for gestational age |
OMIM:610883 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Small for gestational age |
OMIM:618775 |
| Nmda Receptor Encephalitis |
|
Motor stereotypy, Fever, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rig... |
ORPHA:217253 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Inappropriate laughter, Recurrent hand flapping, Spasticity |
OMIM:618859 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia, Fever, Self-injurious behavior, Depression, Aggressive behavior, Emotional lability,... |
ORPHA:293987 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation, Increased body weight |
OMIM:182290 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... |
ORPHA:100 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618825 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance |
OMIM:300486 |
| Genetic Transient Congenital Hypothyroidism |
|
Hypothermia, Lethargy |
ORPHA:226316 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
| Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor |
OMIM:619428 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk |
OMIM:619877 |
| Dystonia-Aphonia Syndrome |
|
Cognitive impairment, Myoclonus, Anxiety, Gait disturbance, Unsteady gait |
ORPHA:412217 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of... |
ORPHA:3440 |
| Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, Whi... |
OMIM:613266 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
| White-Sutton Syndrome |
|
Overfriendliness, Failure to thrive, Motor stereotypy, Self-injurious behavior, Hyperactivity, An... |
OMIM:616364 |
| Cystinosis |
|
Motor stereotypy, Failure to thrive, Fever, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Hyperactivity, Small for gestational age, Anxiety, Overweight, Irritability |
OMIM:617796 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ataxia, Isometric tremor, Falls, Tics, Spasticity, Emotional lability, Impaired social interactio... |
OMIM:619475 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
| Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping, Truncal obesity |
OMIM:613192 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Lethargy |
ORPHA:90673 |
| Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Attention deficit hyperacti... |
ORPHA:261197 |
| 48,Xxxy Syndrome |
|
Abnormal social behavior, Anxiety, Tremor, Attention deficit hyperactivity disorder, Abnormal agg... |
ORPHA:96263 |
| Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Decreased body weight, Paroxysmal bursts of laughter |
OMIM:618347 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit h... |
OMIM:619680 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Choreoacanthocytosis |
|
Mental deterioration, Falls, Chorea, Emotional lability, Weight loss, Slurred speech, Bradyphreni... |
ORPHA:2388 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Motor stereotypy, Poor eye contact, Heat intolerance, Tongue thrusting, Aggress... |
OMIM:606232 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Gait disturbance, Attention deficit hyperacti... |
ORPHA:819 |
| Trigeminal Neuralgia |
|
Depression, Episodic paroxysmal anxiety, Allodynia |
ORPHA:221091 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
| Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior |
OMIM:619435 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Hypothermia, Inability to walk, Exaggerated startle response, Myoclonus, Stereo... |
ORPHA:438213 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Delayed social development, S... |
ORPHA:300570 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping |
OMIM:620021 |
| Squalene Synthase Deficiency |
|
Hypospadias, Bilateral cryptorchidism, Abnormality of hair pigmentation |
OMIM:618156 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Self-mutilation, Tremor, Gait ataxia, Attention deficit hype... |
ORPHA:476126 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Motor stereotypy, Attention deficit hyperactivity disorder, Low frustration tol... |
OMIM:619293 |
| Alazami Syndrome |
|
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation |
ORPHA:319671 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Ataxia, Hyperactivity, Spastic paraparesis, Aggressive behavior, Incoordination |
ORPHA:369891 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... |
ORPHA:522077 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Broad-based gait, Heat intolerance, Tongue thrusting |
ORPHA:98795 |
| Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... |
ORPHA:208447 |
| 4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor, Self-injurious behavior |
ORPHA:238750 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... |
OMIM:618914 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Incoordination, Gait ataxia, Motor stereotypy |
OMIM:616579 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Reduced renal corticom... |
OMIM:618541 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
ORPHA:397612 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Limb hypertonia, ... |
ORPHA:457351 |
| Menkes Disease |
|
Hypothermia, Spasticity, Chorea, Hypertonia |
ORPHA:565 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Abnormal reproductive system morphology |
ORPHA:70472 |
| Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Failure to thrive, Hypertonia, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:212066 |
| Rauch-Steindl Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:619695 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypogo... |
ORPHA:398079 |
| Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
| Luscan-Lumish Syndrome |
|
Anxiety, Shyness, Aggressive behavior, Obesity, Slurred speech |
OMIM:616831 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing, Small for gestational age |
ORPHA:289266 |
| Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... |
OMIM:137920 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Motor stereotypy |
OMIM:616351 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus |
ORPHA:178469 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
| Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Decreased body weight, Inability to walk, Upper limb spasticity, Myoclo... |
OMIM:619229 |
| Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Anxiety, Psychomotor deterioration, Aggressiv... |
ORPHA:319182 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Self-injurious behavior, Tremor, Attention deficit hyperactivity disorder, Aggr... |
OMIM:617061 |
| Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
| Complex Regional Pain Syndrome |
|
Involuntary movements, Allodynia |
ORPHA:83452 |
| 22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder |
ORPHA:1727 |
| Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
| Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact |
OMIM:300672 |
| Marburg Hemorrhagic Fever |
|
Hypothermia, Fever, Aggressive behavior, Lethargy |
ORPHA:99826 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance |
ORPHA:457279 |
| Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Anxiety, Aggressive b... |
OMIM:156200 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Overweight, Lethargy |
ORPHA:226307 |
| Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia |
OMIM:607625 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Inability to walk |
OMIM:617802 |
| Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Stereotypical hand wringing, Hypertonia |
OMIM:619854 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity |
OMIM:617751 |
| Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Failure to thrive, Hypertonia, Inability to walk, Self-injurious behavior, Recu... |
OMIM:615485 |
| 49,Xxxxy Syndrome |
|
Overfriendliness, Tremor, Attention deficit hyperactivity disorder, Shyness, Irritability, Low fr... |
ORPHA:96264 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Tongue thrusting, Inappropriate crying |
ORPHA:77299 |
| 7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Self-injurious behavior, Hyperactivity, Dysmetria, Anxiety, Aggressive behavior... |
ORPHA:96121 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
| Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Attention defi... |
ORPHA:177907 |
| Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
| Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Lethargy |
OMIM:218700 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
| Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Hyperactivity |
OMIM:618027 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypopi... |
ORPHA:398069 |
| Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypospadias, Hypopigmentation of hair, Ureteral duplication, Hydrone... |
ORPHA:96169 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Head-banging, Attention deficit hyperactivity disorder |
OMIM:619103 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or violen... |
ORPHA:1675 |
| Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Small for gestational age |
OMIM:613174 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
| Kleefstra Syndrome 1 |
|
Motor stereotypy, Obesity, Apathy, Aggressive behavior |
OMIM:610253 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:93932 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Failure to thrive, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter |
OMIM:615802 |
| Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Obesity, Hyperactivity |
OMIM:615873 |
| Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of th... |
ORPHA:238468 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Failure to thrive, Heat intolerance, Hemiparesis, Tongue thrusting, Aggressive ... |
ORPHA:369950 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Allodynia, Cachexia, Weight loss, Dementia |
OMIM:603041 |
| 3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hair-pulling, Hyperactivity, Myoclonic spasms, Clonus, Lower limb s... |
ORPHA:447997 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Decreased body weight, Allodynia |
ORPHA:51890 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:98754 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Tip-toe gait, Abnor... |
ORPHA:3008 |
| Transketolase Deficiency |
|
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:488618 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Stereotypical body rocking, Inappropriate crying, Tongue ... |
ORPHA:261323 |
| Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:98793 |
| Prader-Willi Syndrome |
|
Precocious puberty, External genital hypoplasia, Micropenis, Generalized hypopigmentation, Hypogo... |
OMIM:176270 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353281 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:177904 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Shyness |
ORPHA:163971 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:177901 |
| Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
| Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Failure to thrive, Head-banging, Self-injurious behavior, Attention deficit hyp... |
OMIM:619575 |
| White-Sutton Syndrome |
|
Motor stereotypy, Self-injurious behavior, Hyperactivity, Incoordination, Aggressive behavior, Ob... |
ORPHA:468678 |
| Tuberous Sclerosis Complex |
|
Impulsivity, Self-injurious behavior, Hyperactivity, Abnormal social behavior, Depression, Anxiet... |
ORPHA:805 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Gait disturbance, Attent... |
ORPHA:464311 |
| D-Glyceric Aciduria |
|
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia |
OMIM:220120 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia |
ORPHA:496641 |
| Prader-Willi Syndrome |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:739 |
| Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior |
OMIM:610954 |
| Bainbridge-Ropers Syndrome |
|
Hypertonia, Inability to walk, Recurrent hand flapping |
ORPHA:352577 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
| Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... |
ORPHA:398073 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait dist... |
ORPHA:464306 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior |
ORPHA:401777 |
| Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Impulsivity, Poor eye contact, Unilateral vocal cord paralysis, Attention defic... |
OMIM:301030 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Ataxia, Poor gross motor coordination, Hyperactivity, Dysmetr... |
OMIM:614756 |
| Mend Syndrome |
|
Failure to thrive, Hyperactivity, Abnormal social behavior, Limb hypertonia, Aggressive behavior |
ORPHA:401973 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst, Multiple renal cysts |
OMIM:193300 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
| Kleefstra Syndrome |
|
Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior, Obesity |
ORPHA:261494 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Decreased body weight, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:619005 |
| Sarcoidosis |
|
Hypothermia, Fever, Weight loss |
ORPHA:797 |
| Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:2479 |
| Floating-Harbor Syndrome |
|
Hirsutism, Hypospadias, Glandular hypospadias, Varicocele, Long eyelashes, Nephrocalcinosis, Hydr... |
OMIM:136140 |
| 2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder |
ORPHA:1001 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Hypopigmentation of hair, Ureteral stenosis, Iris hypopigmentation, Cryptorchidism |
ORPHA:2719 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
