Maturity-Onset Diabetes Of The Young, Type 14 |
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Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
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Aggressive behavior, Shyness, Gait ataxia |
OMIM:618221 |
Autism |
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Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
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Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:608636 |
Autism, Susceptibility To, 8 |
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Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
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Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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EEG abnormality, Abnormal social behavior |
ORPHA:436151 |
Developmental And Epileptic Encephalopathy 15 |
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Inability to walk, Poor eye contact, Irritability, Hypsarrhythmia |
OMIM:615006 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Pachygyria, Impaired social interactions, Inability to walk |
OMIM:606053 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Developmental And Epileptic Encephalopathy 67 |
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EEG abnormality, Poor eye contact, Athetosis, Gait disturbance, Hypsarrhythmia |
OMIM:618141 |
Dopa-Responsive Dystonia |
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Arm dystonia, Agoraphobia, Leg dystonia, Constipation, Abnormal social behavior, Depression, Ocul... |
ORPHA:255 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Unilateral Focal Polymicrogyria |
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EEG with frontal focal spikes, EEG with parietal focal spikes, Abnormal nonverbal communicative b... |
ORPHA:268947 |
Autism, Susceptibility To, X-Linked 2 |
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Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Early-Onset Schizophrenia |
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Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Pandas |
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Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Hsd10 Disease |
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Abnormal social behavior, Microcephaly, Tremor, Choreoathetosis, Dysphagia, Gastrointestinal dysm... |
ORPHA:391417 |
Vulto-Van Silfhout-De Vries Syndrome |
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Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability |
OMIM:615828 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Young-Onset Parkinson Disease |
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Apathy, Impulsivity, Constipation, Cognitive impairment, Depression, Anxiety, Panic attack, Diarr... |
ORPHA:2828 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Overfriendliness, Aggressive behavior |
OMIM:618010 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
Female Restricted Epilepsy With Intellectual Disability |
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Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Autism, Susceptibility To, 3 |
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Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:608049 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Constipation, Gastroesophageal reflux, ... |
OMIM:608643 |
Stiff Person Spectrum Disorder |
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Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
Tay-Sachs Disease |
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Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Depression, Anxiety, Low self esteem, EEG with spike-wave complexes (2.... |
ORPHA:64280 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
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Waddling gait, Difficulty walking, Shyness |
ORPHA:280763 |
Tonne-Kalscheuer Syndrome |
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Broad-based gait, Self-injurious behavior, Anxiety, Shyness, Aggressive behavior |
OMIM:300978 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
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Constipation, Reduced use of typical gestures, Anxiety, Pronoun reversal |
OMIM:615032 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Gait ataxia, Progres... |
ORPHA:309256 |
Metachromatic Leukodystrophy, Adult Form |
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Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intention tremor, Me... |
ORPHA:309271 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Semantic dementia, Memory impairment, Disinhibition, Dementia |
ORPHA:1020 |
Hyperekplexia 2 |
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Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Stiff-Person Syndrome |
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Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety |
OMIM:184850 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Poor eye contact, Depression, Anxiety, Shyness, Aggressive behavior, Imp... |
ORPHA:449291 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Apathy, Exaggerated startle response, Dementia |
OMIM:272750 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
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EEG abnormality, Shyness |
OMIM:300801 |
Metachromatic Leukodystrophy, Juvenile Form |
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Emotional lability, Decreased nerve conduction velocity, Progressive gait ataxia, Abnormal social... |
ORPHA:309263 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Overfriendliness, Ataxia, EEG abnormality, Aggressive behavior, Multifocal epileptiform discharges |
ORPHA:369891 |
Lamb-Shaffer Syndrome |
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Ataxia, Abnormal social behavior |
ORPHA:530983 |
48,Xxxy Syndrome |
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Constipation, Gastroesophageal reflux, Cleft palate, Abnormal social behavior, Anxiety, Tremor, A... |
ORPHA:96263 |
Cri-Du-Chat Syndrome |
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Overfriendliness, Conspicuously happy disposition, Self-mutilation, Anxiety, Difficulty walking, ... |
OMIM:123450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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High palate, Exaggerated startle response, Microcephaly, Anxiety, Dystonia |
ORPHA:438216 |
Developmental And Epileptic Encephalopathy 68 |
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Microcephaly, Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Niemann-Pick Disease Type C |
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Apathy, Axial dystonia, Cognitive impairment, Mental deterioration, Depression, Abnormal social b... |
ORPHA:646 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Microcephaly, Exaggerated startle response |
OMIM:618367 |
Tay-Sachs Disease |
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Laryngeal dystonia, Exaggerated startle response, Depression, Anxiety, Memory impairment, Tremor,... |
ORPHA:845 |
Dihydropyrimidine Dehydrogenase Deficiency |
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EEG abnormality, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or v... |
ORPHA:1675 |
Fg Syndrome Type 1 |
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High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Gastroesophageal reflux, Constipa... |
ORPHA:93932 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Abnormal cortical ... |
ORPHA:314647 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Luscan-Lumish Syndrome |
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Anxiety, Shyness, Aggressive behavior |
OMIM:616831 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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EEG abnormality, Abnormal nonverbal communicative behavior, Decreased nerve conduction velocity, ... |
ORPHA:485421 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Overfriendliness, Low frustration tolerance |
OMIM:619293 |
Sandhoff Disease |
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Macroglossia, Chronic diarrhea, Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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High palate, Exaggerated startle response, Cessation of head growth, Cognitive impairment, Dyspha... |
OMIM:617527 |
Asparagine Synthetase Deficiency |
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Progressive microcephaly, Microcephaly, Exaggerated startle response |
OMIM:615574 |
White-Sutton Syndrome |
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Overfriendliness, Self-injurious behavior, Anxiety, Aggressive behavior, Waddling gait, Irritability |
OMIM:616364 |
Glycine Encephalopathy With Normal Serum Glycine |
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Dysphagia, Microcephaly, Exaggerated startle response |
OMIM:617301 |
X-Linked Intellectual Disability, Cilliers Type |
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Shyness |
ORPHA:163971 |
49,Xxxxy Syndrome |
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Overfriendliness, Shyness, Irritability, Low frustration tolerance |
ORPHA:96264 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Overfriendliness, Gait ataxia |
OMIM:616579 |
Prader-Willi Syndrome Due To Translocation |
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Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired social interactions, Sk... |
ORPHA:177907 |
Choreoacanthocytosis |
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Apathy, Head-banging, Self-injurious behavior, Irritability, Loss of ambulation, Bradykinesia, De... |
ORPHA:2388 |
Plaa-Associated Neurodevelopmental Disorder |
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High palate, Exaggerated startle response, Impaired oropharyngeal swallow response, Microcephaly,... |
ORPHA:521426 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Hydrocephalus, Exaggerated startle response, Holoprosencephaly, Encephalocele |
OMIM:253800 |
1P21.3 Microdeletion Syndrome |
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Aggressive behavior, Self-injurious behavior, Shyness, Self-mutilation |
ORPHA:293948 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... |
ORPHA:363958 |
Mend Syndrome |
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Aggressive behavior, Abnormal auditory evoked potentials, Abnormal social behavior |
ORPHA:401973 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Impulsivity, Abnormal social behavior, Depression, Anxiety, Aggressive b... |
ORPHA:805 |
Koolen-De Vries Syndrome |
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Overfriendliness |
ORPHA:96169 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Irritability, Hypsarrhythmia |
ORPHA:447997 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Macroglossia |
ORPHA:79255 |
Trichothiodystrophy |
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Impaired social reciprocity, Gait ataxia |
ORPHA:33364 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Poor eye contact, Shyness |
OMIM:301030 |
Williams Syndrome |
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Overfriendliness, Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Con... |
ORPHA:904 |
Orofaciodigital Syndrome V |
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Overfriendliness |
OMIM:174300 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Ataxia, Anxiety, Shyness, Aggressive behavior |
ORPHA:466791 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Constipation, Exaggerated startle response, Gastroesophageal reflux, Dysphagia, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Dysphagia, Microcephaly, Exaggerated startle response, High palate |
OMIM:619522 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety |
ORPHA:99413 |
Turner Syndrome |
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Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety |
ORPHA:881 |
Mosaic Monosomy X |
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Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety |
ORPHA:99228 |
Monosomy X |
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Depression, Delayed social development, Abnormal nonverbal communicative behavior, Anxiety |
ORPHA:99226 |
Monosomy 22Q13.3 |
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Hair-pulling |
ORPHA:48652 |