Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormal retinal morphology,... |
ORPHA:170 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... |
OMIM:300700 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair |
OMIM:618808 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Splenomegaly, Leukoc... |
OMIM:259720 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Intestinal Botulism |
|
Dysphagia, Mydriasis |
ORPHA:178481 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Toxin-Mediated Infectious Botulism |
|
Dysphagia, Mydriasis |
ORPHA:230800 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Hyperactivity, Cataract, Hirsutism |
ORPHA:85288 |
Iatrogenic Botulism |
|
Dysphagia, Mydriasis |
ORPHA:254509 |
Wound Botulism |
|
Dysphagia, Mydriasis |
ORPHA:178475 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Dysphagia, Anorexia, Mydriasis |
ORPHA:178478 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Botulism |
|
Dysphagia, Mydriasis |
ORPHA:1267 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Pituitary Apoplexy |
|
Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen... |
ORPHA:95613 |
Foodborne Botulism |
|
Dysphagia, Mydriasis |
ORPHA:228371 |
Morm Syndrome |
|
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Serotonin Syndrome |
|
Restlessness, Agitation, Mydriasis |
ORPHA:43116 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Optic neuropathy, Broad ischia, Optic atrophy, Diaphyseal dysplasia, Short... |
OMIM:619727 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... |
OMIM:261600 |
Alazami-Yuan Syndrome |
|
Thick eyebrow, Hyperactivity, Broad hallux, Highly arched eyebrow, Cryptorchidism, Synophrys, Low... |
OMIM:617126 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc... |
ORPHA:54 |
Miller Fisher Syndrome |
|
Anisocoria, Dysphagia, Mydriasis |
ORPHA:98919 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Thin eyebrow, Dysphagia, M... |
ORPHA:2131 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Cryptorchidism, Short metatarsal, Advanced ossification of carpa... |
OMIM:614613 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
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 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... |
ORPHA:2969 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Retinal infarction, Mydriasis |
OMIM:613834 |
Arachnoid Cyst |
|
Disinhibition, Mydriasis |
ORPHA:2356 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Gand Syndrome |
|
Long toe, Hyperactivity, Long fingers, Tics, Inappropriate laughter, Sparse hair |
OMIM:615074 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, Rocker bottom foot, Dysphagia, Hypoplastic spleen, Adducted thumb |
ORPHA:89844 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Splenomegaly, Synophrys, Coarse hair, Dysphagia, Rod... |
OMIM:252930 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Aggressive behavior, Splenomegaly, Synophrys, Coarse... |
OMIM:252920 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutila... |
OMIM:615516 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of... |
ORPHA:228402 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Vitiligo |
ORPHA:101003 |
Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Nail pits, Fine hair, Exudative retinopathy, Bone marrow hypocellula... |
OMIM:268130 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Hypoplastic spleen, Brachyda... |
OMIM:602361 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Short Syndrome |
|
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... |
ORPHA:3163 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Cocaine Intoxication |
|
Agitation, Mydriasis |
ORPHA:90068 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di... |
ORPHA:233 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Miosis, Mydriasis |
ORPHA:466677 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Bro... |
OMIM:300406 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Peritonitis, Mydriasis |
OMIM:619351 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq... |
OMIM:620141 |
Plague |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Conjunctival... |
ORPHA:707 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Hec Syndrome |
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Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... |
ORPHA:2119 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys... |
ORPHA:411511 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Optic atrophy, Ect... |
OMIM:618727 |
Trisomy 9P |
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Brachydactyly, Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Clinodactyl... |
ORPHA:236 |
Nephronophthisis 11 |
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Anisocoria, Anemia, Hepatic fibrosis, Polydipsia, Retinal degeneration |
OMIM:613550 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Broad long bones, Sparse eyelashes, Cataract, Fifth finger distal phalanx clinodactyly, 4-5 finge... |
OMIM:257850 |
Brittle Cornea Syndrome |
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Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Abnormalit... |
ORPHA:90354 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Alagille Syndrome |
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Keratoconus, Hypoplasia of the ulna, Hepatomegaly, Corneal dystrophy, Cryptorchidism, Abnormal pu... |
ORPHA:52 |
Cutis Marmorata Telangiectatica Congenita |
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Retinal detachment, Leukocoria, Short lower limbs, Bowing of the legs |
OMIM:219250 |
Coats Disease |
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Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat... |
ORPHA:98794 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Distal Deletion 6P |
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Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Short foot, Anterior synechiae of... |
ORPHA:96125 |
Waardenburg Syndrome, Type 1 |
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White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Bone Marrow Failure Syndrome 3 |
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Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Retinal dysplasia, Neutropenia... |
OMIM:617052 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Stormorken Syndrome |
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Howell-Jolly bodies, Miosis, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Alexander Disease |
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Microcoria |
OMIM:203450 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Brittle Cornea Syndrome 1 |
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Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn... |
OMIM:229200 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
Unilateral Ocular Duplication |
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Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Sympathetic Ophthalmia |
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Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... |
ORPHA:79098 |
Squalene Synthase Deficiency |
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Optic nerve hypoplasia, Bilateral cryptorchidism, 2-3 toe syndactyly, Abnormality of hair pigment... |
OMIM:618156 |
Knobloch Syndrome 1 |
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Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... |
OMIM:267750 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Hermansky-Pudlak Syndrome 8 |
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Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... |
OMIM:614077 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Sparse scalp hair, Hyperactivity, Keratitis, Corneal scarring, Nail dystrophy, Nail dysplasia, Re... |
OMIM:256800 |
Mucopolysaccharidosis Type 3 |
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Adenoiditis, Synophrys, Coarse hair, Generalized hirsutism, Retinal degeneration, Hepatomegaly, H... |
ORPHA:581 |
Familial Dysautonomia |
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Abnormal peritoneum morphology, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Opti... |
ORPHA:1764 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Compulsive ... |
ORPHA:534 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... |
ORPHA:79430 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Adult Syndrome |
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Sparse scalp hair, Absent nipple, Sparse axillary hair, Nail pits, Alopecia of scalp, Hypoplastic... |
OMIM:103285 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Abnormal thumb morphology, C... |
ORPHA:2719 |
Prader-Willi Syndrome |
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Syndactyly, Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryp... |
OMIM:176270 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Overlapping toe, Decreased response to growth hormone stimulation test,... |
ORPHA:177907 |
Mirage Syndrome |
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Rocker bottom foot, Cryptorchidism, Thrombocytopenia, Radial club hand, Leukopenia, Overlapping f... |
OMIM:617053 |
Charcot-Marie-Tooth Disease Type 1E |
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Abnormal pupil morphology, Split hand, Anisocoria, Hammertoe, Tonic pupil, Slow pupillary light r... |
ORPHA:90658 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... |
ORPHA:649 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Cryptorchidism, Small hand, Polyphagia, Short foot, Hip dysplasia, Chor... |
ORPHA:398079 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Anisocoria, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Isolated Ectopia Lentis |
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Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Congenital Fibrosis Of Extraocular Muscles |
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Cataract, Miosis, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pupil shape, Sl... |
ORPHA:45358 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:177901 |
Scalp-Ear-Nipple Syndrome |
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Finger syndactyly, Cataract, Sparse axillary hair, Sparse pubic hair, 3-4 finger cutaneous syndac... |
OMIM:181270 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Impulsivity, Cryptorchidism, Small hand, Polyphagia, Short foot, Hip dy... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... |
ORPHA:98754 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hypopigmentatio... |
ORPHA:167 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria, Dysphagia |
OMIM:300858 |
Retinoblastoma |
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Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocor... |
ORPHA:790 |
Vici Syndrome |
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Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Ocular albinism, Dysphagia, Develo... |
OMIM:242840 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology |
ORPHA:2151 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyelashes, 3-4 fi... |
OMIM:615877 |
Hermansky-Pudlak Syndrome 6 |
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Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Syndromic Diarrhea |
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Hepatomegaly, Hypopigmentation of hair, Brittle hair, Hepatoblastoma, Increased mean platelet vol... |
ORPHA:84064 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
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Ectopia pupillae |
OMIM:618031 |
Trichinellosis |
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Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
Wolf-Hirschhorn Syndrome |
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Hyperconvex fingernails, Abnormal repetitive mannerisms, Iris coloboma, Accessory spleen, Pseudoe... |
OMIM:194190 |
Retinoblastoma |
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Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia, Pinea... |
OMIM:180200 |
Axenfeld-Rieger Syndrome, Type 1 |
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Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy... |
OMIM:180500 |
Axenfeld-Rieger Syndrome, Type 3 |
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Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Microphthalmia, Isolated, With Corectopia |
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Ectopia pupillae |
OMIM:156900 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormality of hair texture, Cryptorchidism, ... |
ORPHA:96169 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overlapping toe, Supernumerary nipple, Tapered finger, Highly arched eyebrow, Cryptorchidism, 2-3... |
OMIM:618653 |
Ectopia Pupillae |
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Ectopia pupillae |
OMIM:129750 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Anisocoria, Optic atrophy, Hyperpigmentation of the skin |
OMIM:231550 |
Charcot-Marie-Tooth Disease Type 4C |
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Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal op... |
ORPHA:99949 |
Cutis Marmorata Telangiectatica Congenita |
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Finger syndactyly, Retinal detachment, Toe syndactyly, Leukocoria, Multiple cafe-au-lait spots, S... |
ORPHA:1556 |
Cystinosis, Nephropathic |
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Hepatomegaly, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Metaphyseal wide... |
OMIM:219800 |
Ophthalmoplegia, Familial Static |
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Anisocoria |
OMIM:165000 |
Facial Spasm |
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Anisocoria |
OMIM:134300 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Proximal placement of thumb, Clinodactyly,... |
OMIM:613406 |
Smith-Lemli-Opitz Syndrome |
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Proximal placement of thumb, Sclerocornea, Iris coloboma, Finger syndactyly, Abnormal eyelash mor... |
ORPHA:818 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... |
OMIM:175780 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Anisocoria, High anterior hairline, Dysphagia |
OMIM:615510 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
ORPHA:739 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair |
ORPHA:1974 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Le... |
OMIM:619488 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Abnormal repetitive m... |
ORPHA:261552 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Highly arched eyebrow, ... |
OMIM:303600 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
Mowat-Wilson Syndrome |
|
Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal colo... |
OMIM:235730 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Congenital hip dislocation, Abnormality of hair texture, Abnormal eyelash ... |
ORPHA:286 |