| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
| Waardenburg Syndrome, Type 2F |
|
Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White for... |
OMIM:619947 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... |
OMIM:615516 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphag... |
ORPHA:411515 |
| Usher Syndrome Type 3 |
|
Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Heterochromia iridis |
OMIM:143000 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... |
OMIM:309548 |
| Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis, Ptosis |
ORPHA:1214 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation, Ataxia, Depression |
ORPHA:231169 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Synophrys, Downslanted palpebral fissures, Cogni... |
ORPHA:1390 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Ataxia, Aggressive behavior, Tremor, Dysphagia, Ptosis |
ORPHA:97229 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... |
OMIM:619165 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Aggressive behavior, Tremor, Blue irides, Abnormal heart morphology, Self-injur... |
OMIM:300978 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal... |
ORPHA:98794 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
| Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Telecanthus, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:619927 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I... |
ORPHA:411511 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation |
ORPHA:177910 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Abnormality of skin pigmentation, Athetosis, Gait disturbance... |
ORPHA:834 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... |
ORPHA:1791 |
| Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Epicanthus, Hyperactivity, Cataract |
ORPHA:85288 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
| Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Aggressive behavior, Almond-shaped palpebral fissure, Blue iri... |
OMIM:619087 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Epicanthus, Unsteady gait, Blue irides, Hand tremor, Dysmetria, Upslanted palpebral fissure, Cafe... |
ORPHA:3041 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
| Xq25 Microduplication Syndrome |
|
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi... |
ORPHA:521258 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
| Angelman Syndrome |
|
Keratoconus, Hypopigmentation of the skin, Hyperactivity, Fair hair, Ptosis, Ataxia, Broad-based ... |
ORPHA:72 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Depression, Gait ataxia, Irritability, Progressive cereb... |
ORPHA:248111 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... |
ORPHA:98795 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Limb tremor, Progressive gait ataxia, Fair ... |
OMIM:105830 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair,... |
ORPHA:381 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:618362 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation, Ataxia, Depression |
ORPHA:231178 |
| Chromosome Xq25 Duplication Syndrome |
|
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow |
OMIM:300979 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Synophrys, White hair, Hyp... |
ORPHA:894 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Unilateral ptosis, Hyperactivity |
OMIM:300928 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Hyperactivity, Fair hair, Blue irides |
OMIM:614613 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Epicanthus, Highly arched eyebrow, Repetitive compulsive behavior, Bilateral ptosi... |
ORPHA:352490 |
| Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behav... |
OMIM:301069 |
| Noonan Syndrome 4 |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulmonic st... |
OMIM:610733 |
| Deafness-Hypogonadism Syndrome |
|
Epicanthus, Heterochromia iridis, Cognitive impairment |
ORPHA:90646 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect,... |
ORPHA:85194 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... |
ORPHA:54 |
| Gand Syndrome |
|
Hyperactivity, Narrow palpebral fissure, Tics, Inappropriate laughter, Blepharophimosis |
OMIM:615074 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| 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 |
| Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebral fissures, Ap... |
ORPHA:1784 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow... |
OMIM:620292 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature ... |
OMIM:193500 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Zellweger Syndrome |
|
Hepatomegaly, Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Ventricul... |
ORPHA:912 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Hooded eyelid, Aggressive behavior, Depression, Self-injurious behavior, Compulsiv... |
OMIM:619467 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Brushfield spots, Abnormal heart morphology,... |
OMIM:214110 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Short attention span, Epicanthus, Highly arched eyebrow, Aggressive ... |
OMIM:618342 |
| Ck Syndrome |
|
Hyperactivity, Epicanthus, Aggressive behavior, Almond-shaped palpebral fissure, Upslanted palpeb... |
OMIM:300831 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
| Koolen-De Vries Syndrome |
|
Ptosis, Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, E... |
OMIM:610443 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ataxia, Ocular albinism, Athetosi... |
ORPHA:2719 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Epicanthus, Aggressive behavior, Secundum atrial septal defe... |
OMIM:620242 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Telecanthus, Hyperactivity, Hyperopic astigmatism, Blepharophimosis, Ptosis |
ORPHA:397973 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Splenomegaly, Ocular al... |
OMIM:214500 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior |
OMIM:615541 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation |
OMIM:617306 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Hyperactivity, Telecanthus, Aggressive behavior, Upslanted palpebral fissure |
OMIM:615286 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow... |
ORPHA:284160 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Patent f... |
ORPHA:177907 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Dysphagia, Gait ataxia, Dystonia |
ORPHA:500180 |
| Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Patent foramen ovale, Iris coloboma, Hooded upper eyelid, ... |
OMIM:619539 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
| Wyburn-Mason Syndrome |
|
Irritability, Iris hypopigmentation |
ORPHA:53719 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Epicanthus, Hyperopic astigmatism, Upslanted palpebral fissure, Narrow palpebral f... |
ORPHA:363686 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Attention deficit hy... |
ORPHA:3205 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Epicanthus, Cataract, Ventricular septal defect, Brushfield spots, Unsteady gait, U... |
OMIM:214100 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... |
ORPHA:79430 |
| Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Upslanted palpebral fissure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive ... |
OMIM:301013 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Upslanted palpebral fissure, Self-inju... |
OMIM:600430 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration t... |
ORPHA:163681 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
| Proteus-Like Syndrome |
|
Cataract, Splenomegaly, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal dermoid... |
ORPHA:2969 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Progressive psychomotor deterioration, Gait ataxia, ... |
ORPHA:363400 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Microcornea, Euryblepharon, Down... |
ORPHA:2995 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Ptosis, Ventricular septal defect, Epicanthus, Ataxia, Aggressive be... |
ORPHA:369891 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Epicanthus, Telecanthus, Ataxia, Broad-based ... |
ORPHA:438216 |
| Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... |
OMIM:614077 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Self-inj... |
ORPHA:228402 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Abnormal iris pigmentation |
OMIM:132900 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys |
OMIM:300143 |
| Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Tremor, Pericardial effusi... |
ORPHA:167 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agi... |
OMIM:618056 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... |
ORPHA:98793 |
| Juvenile Xanthogranuloma |
|
Uveitis, Asymmetry of iris pigmentation, Iritis, Multiple cafe-au-lait spots, Blepharitis |
ORPHA:158000 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
| 16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Nail-biting, Hyperactivity, Epicanthus, Thick eyebrow, Abnormal heart morpholo... |
ORPHA:485405 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... |
ORPHA:177901 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslante... |
OMIM:176270 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Epicanthus, Cataract, Ventricular septal defect, Palpebral edema, Brushfield spots,... |
OMIM:614866 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Dystonia, Hyperpigmentation of the skin, Ataxia, Akinesia, Tremor,... |
OMIM:234200 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... |
ORPHA:98754 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... |
ORPHA:168491 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Abnormal pupil morpholo... |
ORPHA:233 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... |
OMIM:617865 |
| Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Telecanthus, Ataxia, Splenom... |
ORPHA:163746 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:610217 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Mitral valve prolapse, Irri... |
ORPHA:449291 |
| Nail-Patella Syndrome |
|
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les... |
ORPHA:2614 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Athetosis, Dystonia, Self-mutilation, Ptosis |
ORPHA:52503 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Synophrys, Irritability, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, At... |
ORPHA:636 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Cognitive impairme... |
ORPHA:43 |
| Knobloch Syndrome 1 |
|
Epicanthus, Telecanthus, Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract,... |
OMIM:267750 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyopathy, Gait d... |
OMIM:619259 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
| Familial Dysautonomia |
|
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... |
ORPHA:1764 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormality of the orbital regi... |
ORPHA:42775 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
| Down Syndrome |
|
Epicanthus, Ventricular septal defect, Brushfield spots, Complete atrioventricular canal defect, ... |
OMIM:190685 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Hepatosplenomega... |
OMIM:609136 |
| Stiff-Person Syndrome |
|
Vitiligo, Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Dysphagia, M... |
OMIM:252930 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Irritability, Exaggerated startle response, Short attention span |
OMIM:617864 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Abnormal cardiac septum morphology, Ocular albinism, Blepharophimosis |
ORPHA:1352 |
| Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Ptosis |
OMIM:608747 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio... |
OMIM:268800 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Hepatomegaly, Confusion, Abnormal eating behavior, Aggressive behavi... |
ORPHA:247585 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
| Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Tremor, Dysmetria, Compulsive behaviors, Atrial septal defec... |
ORPHA:904 |
| Nail-Patella Syndrome |
|
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epicanthus, Blue irides, Melanocytic nevus |
OMIM:101800 |
| Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Hepatomegaly, Self-m... |
ORPHA:2388 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Epicanthus, Telecanthus, Thick ey... |
ORPHA:319182 |
| Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Epicanthus, Albinism, Dilated cardiomyopathy, Ocular albinism... |
OMIM:242840 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia, Thick eyebrow |
OMIM:620047 |
| Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
| Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Hepatomegaly, Epicanthus, Albinism, Splenomegaly, Ocular albinism... |
OMIM:608233 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Dystonia |
OMIM:617050 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Developmental And Epileptic Encephalopathy 49 |
|
Thick eyebrow, Hyperactivity, Long eyelashes, Exaggerated startle response |
OMIM:617281 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Tremor, Atrial septal defect, Patent foramen ovale |
OMIM:620327 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Ptosis, Exaggerated startle response, Long eyelashes, Dysphagia |
OMIM:617301 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharoph... |
OMIM:604292 |
| Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Short attention span, Epicanthus, Bicuspid aortic valve, Ventricul... |
OMIM:194050 |
| Legius Syndrome |
|
Short attention span, Hyperactivity, Inguinal freckling, Cataract, Dystonia, Axillary freckling, ... |
ORPHA:137605 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Abnormal left ventricle morphology, Upslanted palpebral fis... |
ORPHA:264450 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Sparse eyelashes, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharophimosis, Gen... |
OMIM:129900 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Hyperactivity, Epicanthus, Hyperpigmented streaks, Chorioretinal atrophy, M... |
OMIM:600268 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Irritability, Spastic gait |
OMIM:207800 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Ventricular septal defect, Dextrocardia, Synophrys, Coronary artery fistula, Abnor... |
OMIM:614294 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
| Hermansky-Pudlak Syndrome 4 |
|
Ocular albinism, Albinism |
OMIM:614073 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Epiblepharon, Irritability, Dysphagia, Thick eyebrow |
OMIM:618367 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
| Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Albinism |
OMIM:614076 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Dilated cardiomyopathy, Myocardial fibrosis, Transpositio... |
OMIM:253800 |
| Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Palpebral edema, Ataxia, Aggressive behavior, Unsteady gait, Han... |
OMIM:614756 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal heart valve morphology, Dilated cardi... |
ORPHA:1606 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis |
ORPHA:790 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Dysphagia |
OMIM:617527 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... |
ORPHA:744 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:438213 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Cardiomyopathy, Dystonia |
ORPHA:79255 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Epicanthus, Ventricular septal defect, Telecanthus, Narrow palpebra... |
OMIM:619522 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
|
OMIM:614257 |
