Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Bruxism, Falls, Inappropriate laughter, Dystonia, Abnormal r... |
OMIM:619150 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe... |
OMIM:617820 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior |
ORPHA:382 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing |
OMIM:618760 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Brain a... |
OMIM:618718 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... |
ORPHA:251282 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617830 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Dysto... |
OMIM:600795 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... |
OMIM:172700 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... |
OMIM:618218 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Dysphagia, Cerebral atrophy... |
OMIM:617435 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... |
OMIM:619725 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Low-set ears, Brain a... |
OMIM:619092 |
Christianson Syndrome |
|
Cerebellar atrophy, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Neuronal loss... |
ORPHA:85278 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... |
ORPHA:275864 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... |
OMIM:617695 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia |
OMIM:618141 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Cerebellar atrophy, Shyness, Difficulty walking, Dystonia, Abnormal repetitive man... |
ORPHA:280763 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... |
OMIM:614104 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Foxg1 Syndrome |
|
Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Dystonia, Abnormal repetitive ma... |
ORPHA:561854 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... |
OMIM:619690 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms |
OMIM:619317 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... |
OMIM:619580 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Huntington Disease-Like 1 |
|
Restlessness, Jerky head movements, Abnormal head movements |
ORPHA:157941 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Caudate atrophy, Chorea, Progressive gait ataxia, Dyst... |
ORPHA:157946 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst... |
ORPHA:93958 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements, Dysphagia |
ORPHA:240103 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... |
OMIM:617807 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Macro... |
OMIM:618004 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal social behavior, Abnorma... |
ORPHA:530983 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... |
OMIM:600430 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:352490 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,... |
OMIM:182290 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,... |
OMIM:617802 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Shyness, Aggressive behavior, Self-injurious behavior, Impaired social interaction... |
ORPHA:449291 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Prominent ear helix, Large earlobe, Occipital cortical atrophy, Abnormal repet... |
ORPHA:411986 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
7Q31 Microdeletion Syndrome |
|
Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... |
ORPHA:251061 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L... |
OMIM:123450 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Agitation, Bruxism, Dystonia |
OMIM:617903 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Impaired social interactions, Dysto... |
OMIM:613454 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... |
OMIM:300352 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper... |
OMIM:610042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,... |
OMIM:300260 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Rett Syndrome |
|
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Abnormal autonomic ... |
ORPHA:778 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Compulsive behaviors, Low-s... |
OMIM:618430 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal repetitive mannerisms... |
OMIM:616579 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... |
OMIM:300986 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Posteriorly rotated ears, Low-set ears, Compulsive behavio... |
OMIM:618027 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... |
OMIM:619435 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Choreoathetosis, Impaired social interactions, Dystonia, Conduc... |
ORPHA:261197 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Imp... |
OMIM:300912 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Hearing impairment, Oral-pharyngeal dysphagia |
OMIM:610883 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Ogden Syndrome |
|
Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing imp... |
ORPHA:300570 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
48,Xxyy Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:10 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... |
OMIM:616393 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... |
ORPHA:168491 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Agitation, Ataxia |
ORPHA:927 |
22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... |
OMIM:616364 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Brain atrophy, Limb... |
ORPHA:457351 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disor... |
OMIM:615656 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... |
OMIM:618205 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Compulsive behaviors, Abnormal r... |
OMIM:613174 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive man... |
ORPHA:496641 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Exaggerated startle response |
OMIM:617864 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Self-injurious behavior, Gait disturbance, Attention deficit hyperactivi... |
ORPHA:819 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dysphagia, Depression, Dystonia, Mania, Laryngeal dystonia |
ORPHA:845 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Low-set ears, Attention deficit hyperactivity disorder, Abnormal repeti... |
OMIM:619293 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Bilateral sensorineural hearing impairment, Dystonia, Act... |
ORPHA:66634 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Attention deficit hyper... |
ORPHA:435638 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:610253 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ... |
ORPHA:522077 |
Den Hoed-De Boer-Voisin Syndrome |
|
Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Agitation, Dysphagia, Abnormal repet... |
OMIM:619229 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe... |
ORPHA:457279 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... |
ORPHA:96121 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... |
OMIM:212066 |
Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia |
OMIM:607625 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear |
ORPHA:2479 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance |
ORPHA:213 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Overf... |
OMIM:617330 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior... |
OMIM:614756 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Attention deficit hypera... |
OMIM:619575 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Jerky head movements, Low-set ears, Hearing impairment |
ORPHA:369837 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, A... |
ORPHA:468678 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Kleefstra Syndrome |
|
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... |
ORPHA:261494 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor, Res... |
OMIM:619475 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Impulsivity, Shyness, Cerebral atrophy, Protruding ear, Microtia, Attention d... |
OMIM:301030 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Dysphagia |
OMIM:617527 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, Opis... |
ORPHA:217253 |
Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms |
OMIM:610954 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... |
OMIM:615485 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Brain atrophy, Abnormal rep... |
ORPHA:447997 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in... |
ORPHA:138 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... |
OMIM:620330 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Self-injurious behavio... |
OMIM:619512 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... |
OMIM:301040 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Impair... |
OMIM:619005 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... |
ORPHA:84064 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior |
ORPHA:319182 |
Noonan Syndrome |
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Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Abnormal repetitive mannerisms, Opisthotonus |
ORPHA:508533 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... |
ORPHA:513456 |
Mucopolysaccharidosis Type 2 |
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Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ... |
ORPHA:580 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cupped ear, Bruxism, Com... |
OMIM:615873 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Low-set, posteriorly rotated ears, Self-injurious behavior, Thin ear helix, Bilateral sensorineur... |
ORPHA:468631 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Kinsship Syndrome |
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Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity disorder, Protr... |
ORPHA:464311 |
Norrie Disease |
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Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive mannerisms |
ORPHA:464306 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Low-set ears, Overfolded helix, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Vici Syndrome |
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Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism |
OMIM:242840 |
Arboleda-Tham Syndrome |
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Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Dysphagia, Prominent a... |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Posteriorly rotated ears, Recurrent otitis media, Abnormal repetitive mannerisms, Aggressive beha... |
OMIM:301066 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Posteriorly rotated ears, Cupped ear, Protruding ear, Low-set ears, Abnormal repet... |
OMIM:309590 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dysphagia, Stereotypical hand wringing, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:508498 |
Charge Syndrome |
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Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... |
OMIM:214800 |
Oculocerebrorenal Syndrome Of Lowe |
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Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, Compulsive behaviors,... |
ORPHA:534 |
1P36 Deletion Syndrome |
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Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Polyphagia, Self-injurious b... |
ORPHA:1606 |
Ogden Syndrome |
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Torticollis, Protruding ear, Low-set ears, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
OMIM:300855 |
Coffin-Siris Syndrome 12 |
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Overfolding of the superior helices, Posteriorly rotated ears, Sensorineural hearing impairment, ... |
OMIM:619325 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Smith-Lemli-Opitz Syndrome |
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Abnormal eyelash morphology, Hypopigmentation of hair |
ORPHA:818 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... |
OMIM:612474 |
Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d... |
OMIM:259050 |
Cystinosis, Nephropathic |
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Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Posteriorly rotated ears, Overfolded helix, Abnormal repetitive mannerisms |
OMIM:301044 |
Wolf-Hirschhorn Syndrome |
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Abnormal pinna morphology, Sensorineural hearing impairment, Conductive hearing impairment, Steno... |
OMIM:194190 |
Lowe Oculocerebrorenal Syndrome |
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Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Mowat-Wilson Syndrome |
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Broad-based gait, Ataxia, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, In... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... |
ORPHA:261552 |