Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... |
ORPHA:42665 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Aggressive behavior, Developmental cataract, Gait ataxia, Fair hair |
OMIM:618808 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Phenylketonuria |
|
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cataract, Anxiety... |
OMIM:261600 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... |
ORPHA:170 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... |
ORPHA:1067 |
Urocanase Deficiency |
|
Blue irides, Ataxia, Aggressive behavior, Fair hair |
OMIM:276880 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris... |
ORPHA:411515 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot |
ORPHA:436151 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Hirsutism, Cataract |
ORPHA:85288 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmente... |
OMIM:601706 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Cataract |
ORPHA:75858 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking |
OMIM:619191 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow, Spars... |
OMIM:618362 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... |
ORPHA:2885 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Chromosome Xq25 Duplication Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Hyperactivity, Thick eyebrow, Anxiety |
OMIM:300979 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... |
OMIM:193510 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety, Sparse eyebrow, Highly arched eyebrow |
ORPHA:521258 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, Ataxia, White for... |
OMIM:277580 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... |
OMIM:617126 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... |
ORPHA:248111 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Frontal upsweep of hair, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Heterochromia iridis, White forelock, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentation of hair, Pr... |
ORPHA:33445 |
Elejalde Disease |
|
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... |
OMIM:256710 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Synophrys |
OMIM:615541 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Nail dystrophy, Self-mutilation, Sparse scalp hair, Keratitis, Hyperactivity, E... |
OMIM:256800 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Classic Phenylketonuria |
|
Self-injurious behavior, Hypopigmentation of the skin, Cataract, Attention deficit hyperactivity ... |
ORPHA:79254 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Small nail, Broad-based gait |
OMIM:619470 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, Ataxia, White fore... |
ORPHA:2884 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Mental Retardation, Autosomal Recessive 61 |
|
Highly arched eyebrow, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:617773 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait |
OMIM:615516 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Ataxia, Iris hypopigmentation, Premature graying of hair |
ORPHA:79476 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... |
ORPHA:98818 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Personality disorder |
ORPHA:2382 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Gand Syndrome |
|
Hyperactivity, Sparse hair, Inappropriate laughter |
OMIM:615074 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Cataract, Sparse sca... |
ORPHA:3437 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Gait disturbance, Freckling, Hyperpigmentation of the skin, Iris colo... |
ORPHA:3214 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Hirsutism |
OMIM:300434 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Highly arched eyebrow |
OMIM:618342 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Piebald Trait With Neurologic Defects |
|
White forelock, Ataxia, Absent pigmentation of the ventral chest |
OMIM:172850 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
Oculocerebral Syndrome With Hypopigmentation |
|
Athetosis, Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Happy demeanor, Inappropriate laughter, Hypopigmentation of the skin, Ataxia, Iri... |
ORPHA:411511 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Hyperactivity, Fair hair, Red hair |
OMIM:614613 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Happy demeanor, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait |
OMIM:617865 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Keratoglobus, Abnormal cornea morphology, Keratoconus, Red hair |
OMIM:229200 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Synophrys |
OMIM:615824 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Inappropriate laughter, Hypopigmentation of the skin, Hyperactivi... |
ORPHA:98794 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Alopecia, Hyperactivity, Ataxia, Opacification of the corneal stroma, De... |
OMIM:601853 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
2Q23.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ata... |
ORPHA:228402 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Synophrys, Impulsivity |
OMIM:300143 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Onycholysis |
OMIM:275000 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Astigmatism, Hypopi... |
OMIM:203100 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Long eyelashes, Hirsutism |
OMIM:613684 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Ataxia-Telangiectasia |
|
Gait disturbance, Ataxia, Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature grayin... |
ORPHA:100 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Coffin-Siris Syndrome 7 |
|
Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Sparse scalp hair |
OMIM:618027 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Hypopigmentation of hair, Generalized dystonia |
ORPHA:70472 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair, Self-mutilation, Inappropriate laughter, Hyperopic astigmatism, Hyperactivity, Low fru... |
ORPHA:363686 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Hypopigmentation of the skin, Melanocytic nevus, ... |
ORPHA:79434 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Aggressive behavior, Coarse hair, Hyperactivity, Synophrys |
OMIM:252920 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Aggressive behavior, Hyperactivity, Developmental cataract |
OMIM:616809 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... |
ORPHA:1929 |
Brittle Cornea Syndrome |
|
Decreased corneal thickness, Gait disturbance, Corneal erosion, Corneal scarring, Keratoglobus, C... |
ORPHA:90354 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hyperopic astigmatism |
ORPHA:397973 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Hypopigmentation of the skin, Iris hypopigmentation, Broad-based gait, Hypopigmen... |
ORPHA:98795 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Synophrys |
OMIM:613192 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Cataract, A... |
OMIM:123450 |
Myoclonic-Astatic Epilepsy |
|
Frontal balding, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, ... |
ORPHA:1942 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Hypopigment... |
ORPHA:72 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature graying of hair |
ORPHA:79477 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... |
ORPHA:168491 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Angelman Syndrome |
|
Blue irides, Paroxysmal bursts of laughter, Progressive gait ataxia, Hypopigmentation of the skin... |
OMIM:105830 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hyperactivity, Ataxia, Generalized hirsutism, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Chromosome 2Q37 Deletion Syndrome |
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Self-injurious behavior, Hyperactivity, Aggressive behavior, Highly arched eyebrow |
OMIM:600430 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Aggressive behavior, Irritability, Synophrys |
ORPHA:391307 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Waardenburg Syndrome |
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Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity, Coarse hair, Hirsutism, Synophrys |
OMIM:252900 |
Mental Retardation, Autosomal Dominant 7 |
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Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia |
OMIM:614104 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
X-Linked Adrenoleukodystrophy |
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Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... |
ORPHA:43 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Low anterior hairline, Aggressive behavior, Horizontal eyebrow, Hyperactivity, Ataxia, Frontal up... |
ORPHA:369891 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
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Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Adenylosuccinase Deficiency |
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Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... |
OMIM:103050 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... |
ORPHA:449291 |
Inverted Duplicated Chromosome 15 Syndrome |
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Hyperactivity, Aggressive behavior, Synophrys, Self-biting |
ORPHA:3306 |
Infantile Neuroaxonal Dystrophy |
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Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait |
ORPHA:35069 |
Chromosome 10Q26 Deletion Syndrome |
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Small nail, Aggressive behavior, Hyperactivity, Broad-based gait, Low posterior hairline |
OMIM:609625 |
Glass Syndrome |
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Happy demeanor, Aggressive behavior, Hyperactivity, Nail dysplasia, Broad-based gait, Sparse hair |
OMIM:612313 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Squalene Synthase Deficiency |
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Irritability, Abnormality of hair pigmentation |
OMIM:618156 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:300354 |
16P12.1P12.3 Triplication Syndrome |
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Skin-picking, Hyperactivity, Thick eyebrow, Anxiety, Attention deficit hyperactivity disorder, Na... |
ORPHA:485405 |
Smith-Magenis Syndrome |
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Hyperactivity, Self-mutilation, Head-banging, Synophrys |
OMIM:182290 |
Mend Syndrome |
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Hyperactivity, Cataract |
OMIM:300960 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... |
OMIM:610217 |
X-Linked Creatine Transporter Deficiency |
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Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Waardenburg Syndrome, Type 2E |
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Blue irides, Hypopigmented skin patches, Hypoplasia of the iris, Ocular albinism, White eyelashes... |
OMIM:611584 |
Generalized Eruptive Keratoacanthoma |
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Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis |
ORPHA:411777 |
Waardenburg Syndrome, Type 4C |
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Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... |
OMIM:613266 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Athetosis, Ocular albinism, Ataxia, Corneal opacity, Cataract, Iris hypopigmentation, Hypopigment... |
ORPHA:2719 |
Carney Complex, Type 1 |
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Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Chediak-Higashi Syndrome |
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Gait disturbance, Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Ataxia, Iris h... |
OMIM:214500 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Low anterior hairline, Hyperactivity, Low posterior hairline, Attention deficit hyperactivity dis... |
ORPHA:73272 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Hyperactivity, Anxiety, Aggressive behavior, Ataxia |
OMIM:618430 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Mucopolysaccharidosis, Type Iiid |
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Hirsutism, Coarse hair, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:252940 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Coarse hair, Hirsutism, Synophrys |
OMIM:252930 |
Muenke Syndrome |
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Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Aggressive behavior, Ataxia |
OMIM:610042 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance |
ORPHA:163681 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Hypopigmented skin patches, Gait disturbance, Hyperactivity, Curly hair, Cafe-au-lait spot |
ORPHA:457485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Aggressive behavior, Shuffling gait, Hyperactivity, Low frustration tolerance, Thick eyebrow, Pat... |
OMIM:300534 |
Hoyeraal-Hreidarsson Syndrome |
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Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Ataxia, Spar... |
ORPHA:3322 |
Hypohidrotic Ectodermal Dysplasia |
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Keratoconjunctivitis sicca, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis n... |
ORPHA:238468 |
Bone Marrow Failure Syndrome 3 |
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Small nail, Abnormality of skin pigmentation, Nail dystrophy, Hyperactivity, Astigmatism, Aplasia... |
OMIM:617052 |
Hermansky-Pudlak Syndrome |
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Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... |
ORPHA:79430 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Sparse scalp hair, Hyperactivit... |
OMIM:607721 |
Mucopolysaccharidosis Type 3 |
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Gait disturbance, Pigmentary retinopathy, Hirsutism, Loss of ambulation, Aggressive behavior, Coa... |
ORPHA:581 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Oculoectodermal Syndrome |
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Limbal dermoid, Hyperpigmentation of the skin, Astigmatism, Hyperactivity, Opacification of the c... |
OMIM:600268 |
Prader-Willi Syndrome |
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Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Attention deficit h... |
OMIM:176270 |
Legius Syndrome |
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Dystonia, Multiple cafe-au-lait spots, Hyperactivity, Axillary freckling, Cataract, Inguinal frec... |
ORPHA:137605 |
Koolen-De Vries Syndrome |
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Conspicuously happy disposition, Abnormality of hair texture, Hyperactivity, Cataract, Iris hypop... |
OMIM:610443 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Self-mutilation |
ORPHA:412035 |
Prader-Willi Syndrome Due To Translocation |
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Skin-picking, Happy demeanor, Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of t... |
ORPHA:177907 |
Pediatric-Onset Graves Disease |
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Mood swings, Hyperactivity, Irritability, Keratitis |
ORPHA:525731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance |
OMIM:309520 |
X-Linked Intellectual Disability, Cabezas Type |
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Aggressive behavior, Abnormal hair pattern, Hyperactivity, Broad-based gait, Synophrys |
ORPHA:85293 |
Duane Retraction Syndrome |
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Hypopigmented skin patches, Patchy hypopigmentation of hair, Aniridia, Hypoplastic iris stroma, I... |
ORPHA:233 |
Wiedemann-Steiner Syndrome |
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Aggressive behavior, Long eyelashes, Hyperactivity, Congenital, generalized hypertrichosis, Low f... |
ORPHA:319182 |
47,Xyy Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:8 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Hypopigmen... |
ORPHA:163746 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Pigmentary retinopathy, Hyperpigmentation of the skin, Bradykinesia, ... |
OMIM:234200 |
7Q11.23 Microduplication Syndrome |
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Self-injurious behavior, Dysmetria, Aggressive behavior, Long eyelashes, Horizontal eyebrow, Hype... |
ORPHA:96121 |
Vici Syndrome |
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Developmental cataract, Ocular albinism, Albinism, Hypopigmentation of the skin, Hypopigmentation... |
OMIM:242840 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Inappropriate crying, Small nail, Hypoplastic nipples, Self-injurious behavior, Nail dystrophy, H... |
ORPHA:261323 |
White-Sutton Syndrome |
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Self-injurious behavior, Aggressive behavior, Vitiligo, Iris coloboma, Hyperactivity, Astigmatism |
ORPHA:468678 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
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Hyperactivity, Hypoplastic nipples, Hypermelanotic macule, Cafe-au-lait spot |
OMIM:618505 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Cataract, Abnormality of hair texture |
ORPHA:96169 |
Sim1-Related Prader-Willi-Like Syndrome |
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Skin-picking, Hypopigmentation of hair, Hypopigmentation of the skin, Lethargy |
ORPHA:398079 |
Magel2-Related Prader-Willi-Like Syndrome |
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Skin-picking, Hypopigmentation of the skin, Impulsivity, Hypopigmentation of hair, Lethargy |
ORPHA:398069 |
Choreoacanthocytosis |
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Hair-pulling, Lingual dystonia, Self-injurious behavior, Loss of ambulation, Aggressive behavior,... |
ORPHA:2388 |
Chédiak-Higashi Syndrome |
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Gait disturbance, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Ataxia, Inab... |
ORPHA:167 |
Citrullinemia Type Ii |
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Hyperactivity, Aggressive behavior, Irritability, Lethargy |
ORPHA:247585 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Decreased corneal reflex, Aplasia of the sweat glands, Corneal scarring, Self-mutilation, Hyperac... |
ORPHA:642 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... |
ORPHA:98754 |
Coffin-Siris Syndrome |
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Small nail, Hirsutism, Hypertrichosis, Hypoplastic fifth toenail, Prominent eyelashes, Low anteri... |
ORPHA:1465 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... |
ORPHA:177901 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Torticollis, Iris coloboma, Irritability, Anxiety, Melanocytic nevus, Attention deficit hyperacti... |
OMIM:619475 |
Hallermann-Streiff Syndrome |
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Fine hair, Sparse eyelashes, Sparse scalp hair, Iris coloboma, Hyperactivity, Cataract, Sparse an... |
OMIM:234100 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Prader-Willi-Like Syndrome |
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Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... |
ORPHA:398073 |
Dubowitz Syndrome |
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Hypoplasia of the iris, Sparse lateral eyebrow, Iris coloboma, Hyperactivity, Megalocornea, Spars... |
OMIM:223370 |
Joubert Syndrome 1 |
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Highly arched eyebrow, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia |
OMIM:213300 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Gait disturbance, Hyperactivity, Corneal opacity, Astigmatism, Anxiety, Breast hypoplasia |
ORPHA:464306 |
Syndromic Diarrhea |
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Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmentation of hair, Gener... |
ORPHA:84064 |
Argininemia |
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Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Hypomelanotic macule, Aggressive behavior, Hyperactivity, Ungual fibroma... |
ORPHA:805 |
Acrodysostosis With Multiple Hormone Resistance |
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Blue irides, Hyperactivity, Fair hair, Red hair |
ORPHA:280651 |
Prader-Willi Syndrome |
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Attention deficit hyperactivity disorder, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Smith-Lemli-Opitz Syndrome |
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Sclerocornea, Self-injurious behavior, Iris coloboma, Cataract, Attention deficit hyperactivity d... |
ORPHA:818 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Witteveen-Kolk Syndrome |
|
Fine hair, Aggressive behavior, Conspicuously happy disposition, Iris coloboma, Hyperactivity, Hi... |
OMIM:613406 |
Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Cataract, Spotty hypopigmentation |
ORPHA:401973 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Cystinosis, Nephropathic |
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Corneal crystals, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigmentary r... |
OMIM:219800 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Irritability, Synophrys |
ORPHA:447997 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome 1 |
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Abnormal fear/anxiety-related behavior, Highly arched eyebrow, Hirsutism, Low anterior hairline, ... |
OMIM:180849 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Degcags Syndrome |
|
Hypertrichosis, Low anterior hairline, Abnormality of skin pigmentation, Long eyelashes, Abnormal... |
OMIM:619488 |
Menkes Disease |
|
Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Absent thumbnail, Self-injurious behavior, Hyperactivity, Episodic ataxia |
ORPHA:1934 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear/anxiety-related behavior, Highly arched eyebrow, Trichiasis, Corneal scarring, Self... |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal fear/anxiety-related behavior, Highly arched eyebrow, Trichiasis, Corneal scarring, Self... |
ORPHA:353284 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
Monosomy 22Q13.3 |
|
Hair-pulling, Long eyelashes, Hyperactivity, Thick eyebrow, Hypoplastic toenails |
ORPHA:48652 |