Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
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Attention deficit hyperactivity disorder |
OMIM:613003 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, 20 |
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Attention deficit hyperactivity disorder |
OMIM:618830 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
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Intention tremor, Ataxia, Premature graying of hair |
OMIM:190200 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Immunodeficiency 8 |
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Hyperactivity |
OMIM:615401 |
Graying Of Hair, Precocious |
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Premature graying of hair |
OMIM:139100 |
Cerebellar Ataxia And Albinism |
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Ataxia, Head tremor, Albinism |
OMIM:258300 |
Loose Anagen Hair Syndrome |
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Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Tietz Syndrome |
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Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Uncombable Hair Syndrome |
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Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Oculocerebral Syndrome With Hypopigmentation |
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Hypopigmentation of the skin, Silver-gray hair, Athetosis |
OMIM:257800 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
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Attention deficit hyperactivity disorder |
OMIM:607417 |
Griscelli Syndrome Type 3 |
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Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
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White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Hyperlysinemia, Type I |
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Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
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Attention deficit hyperactivity disorder |
OMIM:617863 |
Urocanase Deficiency |
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Tremor, Ataxia, Fair hair, Blue irides |
OMIM:276880 |
Waardenburg Syndrome, Type 2F |
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Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Hidrotic Ectodermal Dysplasia |
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Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity |
ORPHA:356996 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Woolly Hair |
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Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
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Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Ermine Phenotype |
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Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Albinism, Oculocutaneous, Type Iv |
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Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Piebald Trait With Neurologic Defects |
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White forelock, Ataxia, Absent pigmentation of the ventral chest |
OMIM:172850 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Hypotrichosis 8 |
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Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity |
ORPHA:436151 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Ataxia, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hai... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentation, Hypopigmentation of hair, Abnor... |
ORPHA:2885 |
Neuroectodermal Melanolysosomal Disease |
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Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Tremor, Generalized hyperpigmenta... |
ORPHA:33445 |
Waardenburg Syndrome, Type 4B |
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Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Griscelli Syndrome, Type 2 |
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Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Smith-Magenis syndrome |
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Hyperactivity |
DECIPHER:8 |
White Forelock With Malformations |
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Poliosis, White forelock |
OMIM:277740 |
Waardenburg Syndrome, Type 2A |
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Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premat... |
OMIM:277580 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Oculocutaneous Albinism Type 3 |
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Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Piebaldism |
|
Ataxia, Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys... |
ORPHA:2884 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Griscelli Syndrome Type 1 |
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Ataxia, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair |
ORPHA:79476 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Vogt-Koyanagi-Harada Disease |
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Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair |
ORPHA:411515 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Ataxia-Telangiectasia |
|
Ataxia, Premature graying of hair, Hypopigmentation of hair, Tremor, Multiple cafe-au-lait spots |
ORPHA:100 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Ataxia, Hypopigmentation of hair, Chorea, Generalized dystonia |
ORPHA:70472 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Tremor, Hypopigmentation of hair |
ORPHA:79254 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Ataxia, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigment... |
ORPHA:3322 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Tremor, Iris hypopigmentation |
ORPHA:98794 |
Chediak-Higashi Syndrome |
|
Ataxia, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair... |
OMIM:214500 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair |
OMIM:618541 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair |
ORPHA:411511 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity |
OMIM:618314 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh... |
ORPHA:238468 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ataxia, Ocular albinism, Hypopigmentation of hair, Athetosis, Iris hypopigmentation |
ORPHA:2719 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Ataxia, Hypopigmentation of hair, Heterochromia iridis, Premature gr... |
ORPHA:163746 |
Chédiak-Higashi Syndrome |
|
Ataxia, Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the sk... |
ORPHA:167 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor |
OMIM:615127 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Impaired temperature sensation |
ORPHA:398079 |
Vici Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Ocular albinism |
OMIM:242840 |
Prader-Willi Syndrome |
|
Generalized hypopigmentation, Hypopigmentation of the skin, Frontal upsweep of hair, Hypopigmenta... |
OMIM:176270 |
Syndromic Diarrhea |
|
Woolly hair, Brittle hair, Generalized hypopigmentation, Hypopigmentation of hair, Trichorrhexis ... |
ORPHA:84064 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Impaired temperatu... |
ORPHA:98754 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Impaired temperature sensation |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Impaired temperatu... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Impaired temperatu... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Impaired temperatu... |
ORPHA:177901 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Coarse hair, Dry hair, Widow's peak |
ORPHA:1974 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Impaired temperatu... |
ORPHA:398073 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Impaired temperature sensation |
ORPHA:739 |
Menkes Disease |
|
Hypopigmentation of hair, Woolly hair, Sparse hair, Chorea |
ORPHA:565 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... |
ORPHA:177907 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Hypopigmentation of the skin,... |
OMIM:619488 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor |
ORPHA:86814 |
Acrodysostosis With Multiple Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
ORPHA:280651 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Abnormal eyelash morphology |
ORPHA:818 |
Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |