| 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 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
| Familial Alzheimer-Like Prion Disease |
|
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability |
ORPHA:280397 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
| Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation |
OMIM:137580 |
| 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 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Death in childhood, Sil... |
OMIM:607624 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... |
ORPHA:300570 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:604317 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| 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 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Hypopigmentation of the skin, Sparse body hair, Diffuse palmoplantar hyperkeratosis, On... |
OMIM:617294 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Lissencephaly 4 |
|
Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c... |
OMIM:614019 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Corti... |
ORPHA:300573 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| 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 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| 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 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Sleep apnea, Small nail, Clinodactyly of the 5th finger, Microcephaly, Broad eyebrow, Syndactyly,... |
OMIM:616975 |
| 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 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... |
ORPHA:2185 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Small hand, Hypopigmentation of hair, Abnormal ulnar metaphysis mor... |
ORPHA:177910 |
| Landau-Kleffner Syndrome |
|
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... |
ORPHA:98818 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hyperextensibility of the finger joints, Hypermobility of toe joints, Abnormal lateral ventricle ... |
ORPHA:488635 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Decreased circulating total IgM |
OMIM:610798 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Cessation of head growth, Hypopigmentation of the skin, Hypopigmentation of hair, ... |
ORPHA:411515 |
| Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior |
OMIM:619470 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly, Epiphyseal stippling |
OMIM:614870 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Death in childhood, Sil... |
OMIM:256710 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
| Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:271980 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Basal ganglia gliosi... |
ORPHA:79243 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:250972 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Abno... |
ORPHA:397715 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Periventricular heterotopia, Thick eyebrow, Coxa valga, Colpocephaly, Microcephaly... |
OMIM:619833 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Asthma, Hypoplastic toenails, Dysplastic corpus callosum, Sparse scalp hai... |
ORPHA:544488 |
| Slc35A2-Cdg |
|
Talipes equinovarus, Cerebral atrophy, Hypopigmentation of the skin, Abnormality of the hand, Mic... |
ORPHA:356961 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Absent thumb, Partial duplication of thumb phalanx, Microcephaly, Absent radius, H... |
OMIM:227646 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Piebaldism |
|
Heterochromia iridis, Microcephaly, Hypopigmentation of hair, White eyebrow, White eyelashes, Syn... |
ORPHA:2884 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter |
OMIM:618718 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Nail dysplasia, Abnormality of hair texture, Hypopigmentation of ... |
OMIM:601957 |
| Juvenile Huntington Disease |
|
Depression, Hyperactivity, Irritability |
ORPHA:248111 |
| Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Absent septum pellucidum, Hypoplasia of the radius, Short 1st metacarpal, Microceph... |
OMIM:609053 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
| Halperin-Birk Syndrome |
|
Pseudobulbar paralysis, Talipes equinovarus, Death in childhood, Long eyelashes, Ventriculomegaly... |
OMIM:618651 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior |
OMIM:612716 |
| Weiss-Kruszka Syndrome |
|
Clinodactyly of the 5th finger, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corp... |
OMIM:618619 |
| Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum |
ORPHA:401815 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Colpocephaly, Polymicrogyria, Small nail |
OMIM:618731 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Hypoplasia of the corpus callosum, Abnormal caudate nucleus morphology, Cerebral white matter atr... |
ORPHA:2148 |
| Central Neurocytoma |
|
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Hemiatrophy, Lateral ventricle dilatation, Cerebral cortical hemiatrophy |
ORPHA:306669 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Microcephaly, Congenital hip dislocation, Dilated fourth ventricle, Apneic episodes in infancy, L... |
ORPHA:3078 |
| Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Lateral ventricle dilatation, Thick cerebral cortex |
ORPHA:101071 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Spondyloenchondrodysplasia |
|
Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Cerebral calcification... |
ORPHA:1855 |
| Mosaic Trisomy 1 |
|
Toe syndactyly, Long toe, Hypoplastic thumbnail, Broad 2nd toe, 2-3 finger syndactyly, Arachnodac... |
ORPHA:1692 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Sparse lateral eyebrow, Colpocephaly, Agenesis of corpu... |
OMIM:619955 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Hypoplasia of the corpus callosum, Single transverse palmar crease, Cavum septum ... |
ORPHA:464738 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal ... |
ORPHA:178469 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Distal Monosomy 10Q |
|
Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Prominent fin... |
ORPHA:96148 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... |
ORPHA:488627 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Microcephaly, Short thumb, Hyperpigmentation of the skin, Complete duplication of t... |
OMIM:600901 |
| Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... |
ORPHA:79326 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyr... |
ORPHA:261552 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
| 16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Colpocephaly, Highly arched eyebrow, Abnormal hair pattern, Proximal... |
ORPHA:261250 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Bilateral talipes equinovarus, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, L... |
ORPHA:284417 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Microcephaly, Short thumb, Abnormality of skin pigmentation, Complete duplication o... |
OMIM:227650 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Microcephaly, Short thumb, Hyperpigmentation of the skin, Complete duplication of t... |
OMIM:227645 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified... |
OMIM:615219 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Promi... |
ORPHA:565624 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Overlapping toe, Cerebral cortical atrophy, Clinodactyly of the 5th finger,... |
ORPHA:177907 |
| Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
| 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 |
| Malan Overgrowth Syndrome |
|
Slender long bone, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Ventriculomeg... |
ORPHA:420179 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
| Bilateral Generalized Polymicrogyria |
|
Microcephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Diffuse white matt... |
ORPHA:208447 |
| Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation |
ORPHA:77299 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, 2-3 toe syndactyly, Polymicrogyria, Hypoplasia of the corpus ca... |
OMIM:618156 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Hypoplastic toenails, Hypertrichosis, Clinodactyly of the 5th finger, Supernum... |
ORPHA:477993 |
| Bloom Syndrome |
|
Decreased circulating IgA level, Hypertrichosis, Decreased circulating IgG level, Clinodactyly of... |
OMIM:210900 |
| Cach Syndrome |
|
Dysgyria, Cerebral atrophy, Microcephaly, Lateral ventricle dilatation, Dysphagia |
ORPHA:135 |
| Cog5-Cdg |
|
Joint contracture of the hand, Microcephaly, Camptodactyly of finger, Finger clinodactyly, Cerebr... |
ORPHA:263487 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Talipes equinovarus, Microcephaly, Respiratory insufficiency, Hypoplasia of the corpus callosum, ... |
OMIM:617260 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Cerebral atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Ab... |
ORPHA:572798 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Supernumerary nipple, Cavum sep... |
ORPHA:457279 |
| Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Periventricular heterotopia, Micromelia, Hypoplasia of the corpus callosum, Hammer... |
OMIM:270400 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior |
OMIM:610042 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| 6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Low anterior hairline, Gray matter heterotopia, Colpocephaly, Abnorm... |
ORPHA:75857 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly, Abnormal position of hair whorl |
ORPHA:85290 |
| Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Microcephaly, Pigmentary retinopathy, Clinodactyly, Dysphagia, Colpocephaly |
OMIM:618460 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Adducted thumb, Choroid plexus cyst, Deep palmar crease, Abnormal caudate nucleus morphology, Lat... |
ORPHA:293725 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ... |
ORPHA:2822 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Absent septum pellucidum, Holoprosencephaly,... |
OMIM:618820 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Absent thumb, Secretory IgA deficiency, Hypoplasia of the corpus callosum, Polymi... |
ORPHA:500150 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Periventricular heterotopia, Talipes equinovarus, Microcephaly, Congenital hip... |
OMIM:606170 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Broad hallux, Pneumonia, Hyperactivity, Polydactyly, Pilomatrixoma, Hip dysplasia, Obstructive sl... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Broad hallux, Pneumonia, Hyperactivity, Polydactyly, Pilomatrixoma, Hip dysplasia, Obstructive sl... |
ORPHA:353277 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Absent septum pellucidum, Microcephaly, Pigmentary retinopathy, Single transverse ... |
OMIM:309801 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Congenital Ptosis |
|
Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
| Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Microcephaly, Septo-optic dysplasia, Semilobar holoprosencephaly, Colpo... |
OMIM:301043 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyr... |
ORPHA:261537 |
| Choreoacanthocytosis |
|
Small basal ganglia, Cerebral cortical atrophy, Frontal cortical atrophy, Hyperactivity, Caudate ... |
ORPHA:2388 |
