Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... |
OMIM:120200 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... |
ORPHA:137902 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Microphthalmia |
OMIM:617914 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia |
OMIM:231970 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:604317 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Irritability |
OMIM:617864 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:614306 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Aniridia |
ORPHA:1068 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Self-injurious behavior |
OMIM:613638 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder |
OMIM:619927 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Hyperactivity, Microphthalmia |
OMIM:274270 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... |
OMIM:619827 |
Lennox-Gastaut Syndrome |
|
Personality disorder, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Hyperactivity, Aggressive behavior |
OMIM:609425 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Optic nerve hypoplasia, Inappropriate laughter, Low frustration t... |
ORPHA:363686 |
Landau-Kleffner Syndrome |
|
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... |
ORPHA:98818 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Optic disc hypoplasia |
OMIM:182230 |
Cerebral Visual Impairment |
|
Increased cup-to-disc ratio, Optic nerve hypoplasia, Optic atrophy, Optic disc pallor, Attention ... |
ORPHA:447788 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Optic disc hypop... |
ORPHA:401777 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Microphthalmia |
OMIM:615181 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:271980 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve |
ORPHA:137634 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia, Self-injurious behavior |
OMIM:618828 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy |
ORPHA:496790 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Aganglionic megacolon, Microphthalmia |
ORPHA:85284 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Irritability |
OMIM:618156 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
White-Sutton Syndrome |
|
Self-injurious behavior, Hyperactivity, Rod-cone dystrophy, Optic nerve hypoplasia, Anxiety, Aggr... |
OMIM:616364 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior |
OMIM:612716 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia |
ORPHA:370959 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Optic nerve hypoplasia, Retinal dystrophy |
OMIM:300953 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Infantile Neuroaxonal Dystrophy |
|
Impulsivity, Hyperactivity, Abnormal autonomic nervous system physiology, Peripheral axonal neuro... |
ORPHA:35069 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:612513 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia |
OMIM:610125 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
ORPHA:357001 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia |
OMIM:615280 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Facial palsy, Attention deficit hyperactivity disorder |
ORPHA:261349 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:609053 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Microphthalmia, Increased retinal vascula... |
OMIM:606519 |
Aniridia 1 |
|
Optic nerve hypoplasia, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Retinal vascular... |
OMIM:106210 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Emotional lability |
ORPHA:300570 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Decreased number of... |
OMIM:256800 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity |
OMIM:617600 |
X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Attention deficit hyperactivity disorder, Disinhibi... |
ORPHA:43 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia |
OMIM:301056 |
Septo-Optic Dysplasia Spectrum |
|
Optic nerve hypoplasia, Septo-optic dysplasia |
ORPHA:3157 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia |
OMIM:220120 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Retinal coloboma, Optic disc pallor, Optic nerve hypoplasia |
OMIM:300749 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Microphthalm... |
OMIM:614643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Retinal atrophy, Microphthalmia, Retin... |
OMIM:236670 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:261250 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic nerve hypoplasia, Optic disc hypoplasia |
ORPHA:79345 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Optic nerve hypoplasia, Attenuation of retinal blood vessels, Optic disc... |
ORPHA:468631 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Hyperactivity, Impulsivity, Emotional lability |
OMIM:610217 |
Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia |
OMIM:609069 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Optic nerve hypoplasia, Microphthalmia |
OMIM:243605 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Hyperactivity |
ORPHA:457284 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia, Anxiety |
OMIM:617506 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Optic nerve hypoplasia, Abnormal optic disc morphology, Microphthalmia, Facial ... |
ORPHA:508498 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:495875 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Anophthalmia |
OMIM:605627 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic nerve hypoplasia, Optic disc coloboma |
ORPHA:536471 |
Hydranencephaly |
|
Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia |
OMIM:602535 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Abnormality of the optic nerve |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Abnormality of the optic nerve |
ORPHA:352665 |
Tuberous Sclerosis Complex |
|
Retinal hamartoma, Self-injurious behavior, Impulsivity, Hyperactivity, Carcinoid tumor, Depressi... |
ORPHA:805 |
Holoprosencephaly 13, X-Linked |
|
Optic nerve hypoplasia, Septo-optic dysplasia |
OMIM:301043 |
Phace Syndrome |
|
Optic nerve hypoplasia, Retinal vascular malformation, Lens coloboma, Microphthalmia |
ORPHA:42775 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Optic nerve hypoplasia, Retinal dystrophy |
OMIM:619321 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:141099 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
Choreoacanthocytosis |
|
Apathy, Head-banging, Self-injurious behavior, Irritability, Abnormal autonomic nervous system ph... |
ORPHA:2388 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia |
ORPHA:226307 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, ... |
OMIM:619841 |
8Q24.3 Microdeletion Syndrome |
|
Hyperactivity, Retinal coloboma, Optic nerve hypoplasia, Bilateral microphthalmos, Low frustratio... |
ORPHA:508488 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Optic nerve hypoplasia, Septo-optic dysplasia |
ORPHA:95494 |
Hypotrichosis And Recurrent Skin Vesicles |
|
|
OMIM:613102 |