Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... |
ORPHA:280397 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Frontotemporal dementia, Memory impairment, Aggressive behavior, Abulia, ... |
ORPHA:275864 |
Early-Onset Schizophrenia |
|
Restlessness, Suicidal ideation, Lack of peer relationships, Low self esteem, Shyness, Compulsive... |
ORPHA:96369 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivi... |
ORPHA:468726 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Large for gestationa... |
ORPHA:356996 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Motor tics, Athetosis |
OMIM:615483 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Delayed speech and language development, Hyperactivity, Aggressive behavior, Bruxism |
OMIM:615493 |
Chorea, Benign Hereditary |
|
Gait disturbance, Dementia, Anxiety |
OMIM:118700 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Impaired social... |
ORPHA:168782 |
Creutzfeldt-Jakob Disease |
|
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment |
OMIM:123400 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Shuffling gait, Falls, Inertia, Motor deteriorat... |
ORPHA:412066 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Epilepsy, Progressive Myoclonic, 12 |
|
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress... |
OMIM:619191 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Huntington Disease |
|
Inability to walk, Suicidal ideation, Choking episodes, Irritability, Difficulty walking, Speech ... |
ORPHA:399 |
Huntington Disease-Like 1 |
|
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness |
OMIM:603218 |
Huntington Disease-Like 2 |
|
Inertia, Weight loss, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irritability, ... |
OMIM:606438 |
Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Decreased body weight, Cognitive impairment, Inability to walk, St... |
ORPHA:561854 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... |
ORPHA:100973 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment |
ORPHA:401901 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... |
OMIM:309548 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Hypospadias, Generalized hyperpigmentation |
ORPHA:1355 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Anxiety, Apathy, Depression, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Obsessive-Compulsive Disorder |
|
Collectionism, Skin-picking, Depression, Anxiety |
OMIM:164230 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... |
ORPHA:98818 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Gait disturbance, Ataxia |
ORPHA:29822 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Aggressive behavior, Falls, Delayed speech and language development, Ataxia, Inappropriate laught... |
OMIM:619150 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Anxiety, Cachexia, Ataxia, Dysmetria, Depression, Mental deterioration, Dysphagia, I... |
OMIM:618093 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Inability to walk |
OMIM:618557 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Weight loss, Ataxia, Dementia, Depression, Progressive cerebellar ata... |
ORPHA:248111 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Intermittent hypothermia, Choreoathetosis, Irritability, Emotional ... |
OMIM:608643 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Emotional lability, Impulsiv... |
ORPHA:66624 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Dementia, Dysmetria, Depression, Anxiety, Progressive cerebellar ataxia |
OMIM:604326 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Anxiety, Motor deterioration, Dementia, Emotional lability, Abnormal repeti... |
ORPHA:79264 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Cognitive impairment, Echolalia, Ataxia, Agitation, Emotional lability, Failure to thrive, Abnorm... |
ORPHA:927 |
Riboflavin Deficiency |
|
Hypothermia, Lethargy |
OMIM:615026 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Inability to walk, Anxiety, Motor deterioration, Delayed spee... |
ORPHA:168491 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Recurrent hand flapping, Absent speech, Dysphagia, Broad-based gait |
OMIM:617862 |
Posterior Cortical Atrophy |
|
Inertia, Ataxia, Anxiety, Language impairment, Memory impairment |
ORPHA:54247 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Echolalia, Delayed speech and language development, Recurrent... |
OMIM:615516 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Delayed speech and language development, Attention deficit hyperactivity disorder, Bradykinesia, ... |
OMIM:618878 |
Dystonia 12 |
|
Emotional lability, Depression, Anxiety, Dysphagia, Unsteady gait, Bradykinesia |
OMIM:128235 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Gait disturbance, Inappropriate laughter, Difficulty walking, Reduce... |
ORPHA:505652 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Inability to walk, Delayed... |
OMIM:618718 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Lethargy |
OMIM:610006 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Woolly Hair Nevus |
|
Precocious puberty, Patchy hypopigmentation of hair, Curly hair, Congenital posterior occipital a... |
ORPHA:79414 |
Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Anxiet... |
ORPHA:228360 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Cachexia, Abnormal repetitive mannerisms, Absent speech, Inappropria... |
ORPHA:85278 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation, Pseudobulbar para... |
ORPHA:208441 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Shuffling gait, Abnor... |
ORPHA:3077 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Bradykinesia, Dementia, Anxiety |
OMIM:605909 |
Manganese Poisoning |
|
Aggressive behavior, Akinesia, Hypersexuality, Gait disturbance, Emotional lability, Compulsive b... |
ORPHA:306682 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Perry Syndrome |
|
Inappropriate behavior, Frontotemporal dementia, Akinesia, Weight loss, Suicidal ideation, Apathy... |
OMIM:168605 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Shyness, Abnormal repetitive mannerisms, Difficulty walking, Overweight, Waddling gait |
ORPHA:280763 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Lethargy |
ORPHA:95717 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Aggressive behavior, Anxiety, Tics, Dementia, Emotional lability, Se... |
OMIM:200150 |
Atypical Rett Syndrome |
|
Gait ataxia, Inability to walk, Stereotypical hand wringing, Impaired social interactions, Inappr... |
ORPHA:3095 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Delayed speech and language development, Gait disturbance, Abnormal repetitive mannerisms, Overwe... |
ORPHA:457240 |
Meningococcal Meningitis |
|
Hypothermia, Lethargy, Fever, Irritability |
ORPHA:33475 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cognitive impairment, Anxiety, Motor deterioration, Apathy, Gait disturbance, Dementia, Emotional... |
ORPHA:136 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Pica, Echolalia, Delayed speech and language development, Recurrent hand flappi... |
OMIM:615032 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Abnormality of temperature regulation, Inability to walk, Hypothermia, Fever, Unsteady gait, Obesity |
OMIM:618493 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interaction... |
ORPHA:449291 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Aggressive behavior, Cognitive impairment, Diminished motivation, Dysd... |
OMIM:615157 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Delayed speech and languag... |
ORPHA:228402 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Inability to walk, Stereotypical hand wringing, Absent speech, Inappropr... |
OMIM:614254 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Cognitive impairment, Dysdiadochokinesis, Spastic gait, Hypothermia, Gait disturbanc... |
ORPHA:99027 |
Fragile X Tremor/Ataxia Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Anxiety, Dementia, Impaired tandem gait, Dysmetria, Obsessive-co... |
OMIM:300623 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Akinesia, Anxiety, Delayed speech and language development, Dementia, Absent... |
OMIM:300894 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Delayed speech and language deve... |
ORPHA:163681 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Angelman Syndrome Due To A Point Mutation |
|
Heat intolerance, Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia, Inappropriate ... |
ORPHA:411511 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Abnormal social beha... |
ORPHA:101039 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Suicidal ideation, Abnormal repetitive mannerisms, Attention deficit hypera... |
ORPHA:98784 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia |
OMIM:245400 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Fever, Depression, Anxiety, Lethargy, Polydipsia |
ORPHA:178029 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Delayed speech and language development, Repetitive com... |
ORPHA:352490 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Hypersexuality, Apathy, Repetitive compulsive behavior, Agitation, Polyp... |
OMIM:607485 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, External genital hypoplasia, Iris hypopigmentation, Hypopigmentatio... |
ORPHA:177910 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Pica, Tics, Happy demeanor, Ataxia, Absent speech, Failure to thrive, Tongue thrus... |
OMIM:617865 |
Young-Onset Parkinson Disease |
|
Cognitive impairment, Gait imbalance, Frontal lobe dementia, Impaired social interactions, Apathy... |
ORPHA:2828 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Heat intolerance, Hyperactivity, Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia,... |
ORPHA:98794 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Alexander Disease |
|
Self-injurious behavior, Hypothermia, Gait disturbance, Ataxia, Emotional lability, Failure to th... |
ORPHA:58 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia |
ORPHA:3198 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Hypothermia, Apathy, Ataxia, Fever, Lethargy |
ORPHA:20 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Exaggerated startle response |
OMIM:608800 |
Tbck-Related Intellectual Disability Syndrome |
|
Cognitive impairment, Inability to walk, Delayed speech and language development, Bipolar affecti... |
ORPHA:488632 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Lethargy |
ORPHA:95716 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Paroxysmal bursts of laughter, Aggressive behavior, Echolalia, Inability to walk, De... |
OMIM:619580 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Shuffling gait, Spastic gait, Delayed speech and language development, Bruxism, Choreoathetosis, ... |
OMIM:300055 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... |
ORPHA:313892 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age |
ORPHA:226313 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-related behavior, Cog... |
ORPHA:309246 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Lethargy, Irritability |
ORPHA:159 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Impaired social interactions, Delayed speech and language development, Recurrent hand flapping, G... |
ORPHA:544254 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, Gait disturbance, Agitation, Abnormal repetitive ... |
ORPHA:778 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypothermia, Progressive neurologic deterioration |
OMIM:618329 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Dementia, Ataxia, Failure to thrive, Mental deterioration, Lethargy, Memory impairment |
ORPHA:79282 |
Congenital Hypothyroidism |
|
Hypothermia, Depression, Anxiety |
ORPHA:442 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Abno... |
ORPHA:3306 |
Permanent Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226292 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Failure to thrive, Attention deficit hyperactivity disorder, Depression, Lethargy |
ORPHA:90674 |
Congenital Enterovirus Infection |
|
Hypothermia, Irritability, Fever |
ORPHA:292 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Delayed speech and language development, Repetitive compulsive behavior, Failure to thrive, Atten... |
ORPHA:391372 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Tics, Recurrent hand flapping, Delayed speech and language development, Abse... |
OMIM:617788 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Impaired social interactions, Hypothermia, Emotiona... |
ORPHA:293987 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Hypothermia, Obesity, Overweight, Lethargy |
ORPHA:26793 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Delayed speech and language development, Abnormal social behavior, Ataxia, Abnorma... |
ORPHA:530983 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Abnormal repetitive ... |
ORPHA:391307 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Anxiety, Delayed speech and language development, Ataxia, Attention deficit hyperactivity disorde... |
OMIM:619725 |
Distal Xq28 Microduplication Syndrome |
|
Aggressive behavior, Tip-toe gait, Self-biting, Delayed speech and language development, Impulsiv... |
ORPHA:293939 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Anxiety, Recurrent hand flapping, Gait disturbance,... |
OMIM:300986 |
48,Xxyy Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression, Anx... |
ORPHA:10 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait ataxia, Inertia, Anxiety, Gait disturbance, Ataxia, Dementia, Compulsive behaviors, Dysmetri... |
ORPHA:93256 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hostility, Decreased body weight, Inability to walk, Anxiety, Repetitive compulsive behavior, Ata... |
OMIM:300260 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Reduced eye contact, Inability to walk |
ORPHA:411986 |
Ethylene Glycol Poisoning |
|
Hypothermia, Euphoria, Alcoholism, Ataxia |
ORPHA:31826 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Hypothermia, Choreoathetosis, Failure to thrive, Unsteady gait |
ORPHA:17 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Attention defici... |
OMIM:617600 |
Rett Syndrome |
|
Gait ataxia, Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Motor deterioration, Cach... |
OMIM:312750 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Inappropriate crying, Recurrent hand flapping, Gait disturbance, Agitation, Absent speech, Bruxism |
OMIM:617903 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Childhood Absence Epilepsy |
|
Punding, Abnormal social behavior, Low self esteem, Attention deficit hyperactivity disorder, Dep... |
ORPHA:64280 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Generalized hirsutism, Ovarian ... |
ORPHA:2221 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Hypothermia, Ataxia, Failure to thrive, Fever, Dysphagia |
ORPHA:255210 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Hypospadias, Blue irides, Cryptorchidism, Red hair |
OMIM:614613 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... |
ORPHA:261197 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Delayed speech and language development, Gait disturbance, Abnormal repe... |
ORPHA:819 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Anxiety, Delayed ... |
ORPHA:72 |
Alazami Syndrome |
|
Stereotypical hand wringing, Abnormal repetitive mannerisms, Anxiety, Abnormal eating behavior, S... |
ORPHA:319671 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hyperactivity, Abnormal emotion/affect behavior, Hypothermia, Impulsivity, Difficulty walking, Na... |
ORPHA:642 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Macrocephaly-Developmental Delay Syndrome |
|
Delayed speech and language development, Self-injurious behavior, Abnormal repetitive mannerisms,... |
ORPHA:397612 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Self-biting, Stereotypical hand wringing, Bulimia, Recurrent ... |
OMIM:300912 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Hypothermia |
OMIM:618775 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Abnormal testis morphology, Hypopigmentation of hair, Polycystic ovari... |
ORPHA:100 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Aggressive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Absent sp... |
ORPHA:476126 |
Cystinosis |
|
Gait disturbance, Abnormal repetitive mannerisms, Failure to thrive, Fever, Polydipsia |
ORPHA:213 |
Neuroleptic Malignant Syndrome |
|
Hypothermia, Agitation, Fever, Anxiety, Dysphagia |
ORPHA:94093 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
22Q11.2 Duplication Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive behaviors, At... |
ORPHA:1727 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia, Lethargy |
ORPHA:226316 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypothermia |
OMIM:251880 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, Hypogonadism, White eyelashes, White eyebrow, Hypopigmented skin patch... |
OMIM:613266 |
Trigeminal Neuralgia |
|
Allodynia, Episodic paroxysmal anxiety, Depression |
ORPHA:221091 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
4Q21 Microdeletion Syndrome |
|
Delayed speech and language development, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Anxiety, Delayed speech and language development, Psychomotor... |
ORPHA:319182 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Inability to walk, Stereotypical hand wringing, Hypothermia, Absent... |
ORPHA:438213 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Inability to walk, Severe receptive language delay, Abnormal repetitive ... |
ORPHA:457351 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear/anxiety-related behavior, Apathy, Agitation, Difficulty walking, Depression, Anxiet... |
ORPHA:100924 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Lethargy |
ORPHA:90673 |
Transketolase Deficiency |
|
Self-injurious behavior, Delayed speech and language development, Abnormal repetitive mannerisms,... |
ORPHA:488618 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Delayed speech and language development, Ataxia, Abnormal repetitive manneri... |
ORPHA:457279 |
Nmda Receptor Encephalitis |
|
No social interaction, Hypersexuality, Choreoathetosis, Agitation, Abnormal repetitive mannerisms... |
ORPHA:217253 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Bilateral cryptorchidism, Hypospadias |
OMIM:618156 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:85277 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
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 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hypopigmentation of the skin, Hypopigmentation of... |
OMIM:618541 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Abnormal reproductive system morphology |
ORPHA:70472 |
Choreoacanthocytosis |
|
Hair-pulling, Self-mutilation of tongue and lips due to involuntary movements, Dysphagia, Sociall... |
ORPHA:2388 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Inability to walk, Impaired social interactions, Emotional lability, Abnormal rep... |
ORPHA:300570 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Precocious puberty, Hypogonadism, External genital hypoplasia, Decr... |
ORPHA:398079 |
5Q14.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:228384 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
3P25.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Ataxia, Absent speech, A... |
ORPHA:435638 |
Rett Syndrome, Congenital Variant |
|
Impaired social interactions, Inappropriate crying, Irritability, Absent speech, Tongue thrusting... |
OMIM:613454 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, Glycosuria, Unilateral r... |
OMIM:137920 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Impaired social interactions, Delaye... |
ORPHA:96121 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... |
ORPHA:468678 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Suicidal ideation, Repetitive compulsive behavior, Violent behavior, Aggre... |
OMIM:619475 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Impaired social interactions, Delayed speech and language development, Happy demean... |
ORPHA:177907 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Self-biting, Choreoathetosis, Repetitive compulsive behavior, Ataxia, Abnormal repetitive manneri... |
ORPHA:522077 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Allodynia, Cachexia, Dementia, Dysphagia, Slender build |
OMIM:603041 |
Marburg Hemorrhagic Fever |
|
Aggressive behavior, Hypothermia, Lethargy, Fever |
ORPHA:99826 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Absent speech, Compulsi... |
ORPHA:401777 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Lethargy, Overweight |
ORPHA:226307 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Self-injurious behavio... |
ORPHA:353281 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Delayed speech and language development, Gait disturbance, Abnormal re... |
ORPHA:464311 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Heat intolerance, Aggressive behavior, Delayed speech and language development, Compulsive behavi... |
ORPHA:369950 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:500159 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Ataxia, Absent speech, Bruxism |
OMIM:616393 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Lethargy |
OMIM:218700 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Decreased body weight |
ORPHA:51890 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Hypopigmentation of hair, Hypospadias, Cryptorchidism, Abnormality of hair... |
ORPHA:96169 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Menkes Disease |
|
Hypothermia |
ORPHA:565 |
Occipital Horn Syndrome |
|
Hypothermia, Dysphagia |
ORPHA:198 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Precocious puberty, Hypogonadism, External genital hypoplasia, Decr... |
ORPHA:398069 |
Kleefstra Syndrome |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... |
ORPHA:261494 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Delayed speech and language development, Gait disturban... |
ORPHA:464306 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Delayed speech and language development, Abnormal repetitive manneri... |
ORPHA:447997 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Precocious puberty, External genital hypoplasia, Decreased testicul... |
ORPHA:98754 |
2Q37 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1001 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Precocious puberty, Generalized hypopigmentation, External genital ... |
OMIM:176270 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Precocious puberty, External genital hypoplasia, Decreased testicul... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Precocious puberty, External genital hypoplasia, Decreased testicul... |
ORPHA:177904 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Absent speech, Ataxia, Dysphagia |
ORPHA:496641 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Precocious puberty, External genital hypoplasia, Decreased testicul... |
ORPHA:177901 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:261144 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... |
ORPHA:3322 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Precocious puberty, Hypogonadism, External genital hypoplasia, Decr... |
ORPHA:739 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Precocious puberty, External genital hypoplasia, Decreased testicul... |
ORPHA:398073 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Von Hippel-Lindau Syndrome |
|
Multiple renal cysts, Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Delayed speech and language development, Repetitive compulsive behavior, Abnormal re... |
ORPHA:513456 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Ureteral stenosis, Cryptorchidism |
ORPHA:2719 |
Sarcoidosis |
|
Hypothermia, Fever, Weight loss |
ORPHA:797 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Self-injurious behavio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Self-injurious behavio... |
ORPHA:353277 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Abnormal repetitive mannerisms, Impulsi... |
ORPHA:580 |
Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Low posterior hairline, Generalized hypertrichosis, Long eye... |
OMIM:136140 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, No social interaction, Inability to walk, Absent speech |
ORPHA:508533 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Repetitive compulsive behavior, Abno... |
ORPHA:805 |
Syndromic Diarrhea |
|
Cafe-au-lait spot, Trichorrhexis nodosa, Generalized hypopigmentation, Brittle hair, Polycystic k... |
ORPHA:84064 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... |
OMIM:214500 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Hypopigmented skin patches,... |
ORPHA:163746 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Shawl scrotum, Widow's peak, Hypopigmentation of hair, Coarse hair |
ORPHA:1974 |
Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Ataxia |
ORPHA:66634 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Delayed speech and language development, Gait disturbance, Abnormal repe... |
ORPHA:1606 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Hypopigmentation of the skin, Stage 5 chronic kidney disease, Glycosuria, Hyperpho... |
OMIM:219800 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Acrodysostosis With Multiple Hormone Resistance |
|
Low urinary cyclic AMP response to PTH administration, Hypogonadism, Fair hair, Hypospadias, Blue... |
ORPHA:280651 |
Degcags Syndrome |
|
Ambiguous genitalia, Abnormal eyebrow morphology, Hypopigmentation of the skin, Abnormality of sk... |
OMIM:619488 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
Vici Syndrome |
|
Hypopigmentation of the skin, Penile hypospadias, Ocular albinism, Albinism, Hypopigmentation of ... |
OMIM:242840 |
Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycyst... |
ORPHA:2044 |
Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Failure to thrive,... |
ORPHA:534 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamines, Multiple renal cysts, Papillary cystadenoma of the epididymis, E... |
ORPHA:892 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypopigmentation of hair,... |
ORPHA:818 |
Norrie Disease |
|
Self-injurious behavior, Cachexia, Abnormal repetitive mannerisms, Failure to thrive, Attention d... |
ORPHA:649 |
Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu... |
ORPHA:167 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Mowat-Wilson Syndrome |
|
Decreased body weight, Inability to walk, Anxiety, Impaired social interactions, Happy demeanor, ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Inability to walk, Happy demeanor, Abnormal repetitive mannerisms, Absent speech, Failure to thri... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Inability to walk, Happy demeanor, Abnormal repetitive mannerisms, Absent speech, Failure to thri... |
ORPHA:261552 |