| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, D... |
OMIM:607624 |
| Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Hip dislocation, Dysphagia, Pachygyria, Abnormal repetiti... |
ORPHA:572013 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Metatarsus adductus, Partial agenesis of the corpus callosum, Small hand, Simplified gyral patter... |
ORPHA:300570 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Agenes... |
OMIM:600638 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Intercostal muscle weakness, Respiratory insufficie... |
OMIM:607596 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Abnormality of the hand, Aggressive behavior, Basal ganglia calcification, Cereb... |
OMIM:221770 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Narrow palm, Small hand, Polyphagia, Short foot, Abnormal ulnar metaphy... |
ORPHA:177910 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly, Pachygyria |
OMIM:614870 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Rocker bottom foot, Cerebral atrophy, Lateral ventricle dilatation, Talipes equ... |
OMIM:618266 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Respiratory insu... |
OMIM:617668 |
| 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 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Cessation of head growth, Polyphagia, Inappropriate laug... |
ORPHA:411515 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventriculomegaly, Microcephaly, Widow's peak, Hypoplastic anterior commissure, Hip dy... |
OMIM:616975 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Hypopigmentation of the skin |
OMIM:610798 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Single transverse palmar crease, 2-3 toe syndactyly, Abnormal cerebral ... |
OMIM:613443 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Microcephaly, Retinal pigment epithelial mottling, Partial agenesis of the corpus c... |
OMIM:619517 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... |
OMIM:256710 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hyperextensibility of the finger joints, Hypermobility of toe joints, Abnormal lateral ventricle ... |
ORPHA:488635 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Neonatal respiratory distress, Single transverse palmar crease, Microcephaly, P... |
ORPHA:79243 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Ventriculomegaly, Coxa valga, Aggressive behavior, Microcephaly, H... |
OMIM:619833 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hyperactivity, Single transverse palmar crease, Reduced cerebral white matter volume,... |
OMIM:620075 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Highly arched eyebrow, Microcephaly, Synophrys, Recurren... |
OMIM:617751 |
| Joubert Syndrome 3 |
|
Central apnea, Frontal polymicrogyria, Enlarged fossa interpeduncularis, Episodic tachypnea, High... |
OMIM:608629 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Hypoplastic toenails, Periventricular cysts, Clinodactyly of the 5th finger, Dilated third ventri... |
ORPHA:544488 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Aggressive behavior, Microcephaly, Corpus callosum atrophy, Low anterior h... |
OMIM:619244 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb... |
OMIM:227646 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Synophrys, Hydrocephalus, Cerebral atrophy,... |
OMIM:620156 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Micromelia, Subependymal cysts, Lateral ventricle dilatatio... |
OMIM:610015 |
| Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia ... |
OMIM:619420 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Hy... |
ORPHA:2884 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the ... |
OMIM:616034 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Impulsivity, Aggressive behavior, 2-3 toe syndactyly, Small thenar eminence, Self-inj... |
OMIM:618914 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Hypopigmentation of the skin, Brachydactyly, Single transverse palma... |
OMIM:601957 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Synophrys, Hydrocephalus, Lobar holopros... |
OMIM:609637 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Microcephaly, Hydrocephalus, Low anterior hairline, Ce... |
OMIM:614219 |
| Slc35A2-Cdg |
|
Cerebral white matter atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Meta... |
ORPHA:356961 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Apnea, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossif... |
ORPHA:397715 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Cessation of head growth, S... |
ORPHA:411511 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria, Short palm |
OMIM:300982 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Cessation of... |
ORPHA:98794 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Hemiatrophy |
ORPHA:306669 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... |
ORPHA:77299 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Single transverse palmar crease, Microcephaly, Periventricular heterotopia, Retinal... |
OMIM:614105 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Single transverse palmar crease, Microcephaly, Asthma, Clubbing, Low posterior hairline, Lateral ... |
OMIM:618606 |
| Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia, Lateral ventricle dilatation |
ORPHA:101071 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... |
ORPHA:2148 |
| Halperin-Birk Syndrome |
|
Hip dislocation, Aspiration, Pseudobulbar paralysis, Colpocephaly, Long eyelashes, Talipes equino... |
OMIM:618651 |
| Bilateral Generalized Polymicrogyria |
|
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... |
ORPHA:208447 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Hypoplasia of the... |
OMIM:616816 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Ulnar deviation of the hand, Proximal placement of ... |
OMIM:620113 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Partial agenesis of... |
OMIM:210710 |
| Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Shortening of all distal phalanges of the fingers, Lateral ventricle dilatation, Br... |
OMIM:615716 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum |
ORPHA:401815 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lateral ventricle dilatation, Bilateral talipes equinovarus, Lissenceph... |
ORPHA:284417 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Cavum septum pellucidum, Dilated third ventricle, Agenesis of co... |
ORPHA:464738 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... |
ORPHA:449291 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... |
OMIM:615889 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Aggressive behavior,... |
ORPHA:488627 |
| Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, Agen... |
OMIM:609053 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Compulsive behaviors, Clinodactyly of the 5th finger, Abnormal repetitive m... |
ORPHA:177907 |
| Weiss-Kruszka Syndrome |
|
Single transverse palmar crease, Highly arched eyebrow, Proximal placement of thumb, Colpocephaly... |
OMIM:618619 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus callosum, Abnormal repetitive m... |
ORPHA:261552 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Spina bifida occulta, Agenesis... |
OMIM:618736 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Small nail, Microcephaly |
OMIM:618731 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 phase of cell cycle, Complet... |
OMIM:600901 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... |
OMIM:607485 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 phase of cell cycle, Abnorma... |
OMIM:227650 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Microcephaly, Calcaneov... |
ORPHA:3078 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Probst bundles, Respiratory distress, Sparse eyelashes, Sandal gap... |
OMIM:612863 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
| Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Hypoplastic toenai... |
ORPHA:96148 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 phase of cell cycle, Bone ma... |
OMIM:227645 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Swelli... |
ORPHA:69087 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Age... |
OMIM:620352 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Cerebral calcification, Pneumonia, ... |
ORPHA:1855 |
| Craniosynostosis 6 |
|
Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Spina bifida occulta, Agenesis... |
OMIM:616602 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Multifocal cerebral white matter abnormalities, Subependymal cysts, Lateral ventricle dila... |
OMIM:600721 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Sparse later... |
OMIM:619955 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Impulsivity, Lateral ventricle dilatation, Secondary microcephaly, Attention deficit hyperactivit... |
OMIM:617854 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Proximal placement of thumb, Periventricular hetero... |
ORPHA:261250 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Thick eyebrow, Ulnar deviation of the hand, Arachnodactyly, Highly arched eyebr... |
OMIM:615485 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral calcification, Microcephaly, Respiratory insufficie... |
OMIM:617397 |
| Cach Syndrome |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Dysphagia, Dysgyria |
ORPHA:135 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Dysphagia, Death in childhood, Lateral ventricle dilatation, Resp... |
OMIM:619847 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Syndactyly, Microcephaly, Spotty hypopigmentation, Decreased cir... |
OMIM:210900 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... |
ORPHA:565624 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h... |
OMIM:615219 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Sandal gap, Microcephaly, Widow's peak, Small hand, 2-3 toe syndactyly, Stereot... |
OMIM:619229 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Abnormality of hair pigmentation, 2-3 toe syndactyly, Slender long bon... |
OMIM:618156 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Supernumerary nipple, Aggressive behavior, Abnormal cerebral white ma... |
ORPHA:457279 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Malan Overgrowth Syndrome |
|
Low posterior hairline, Slender long bone, Lateral ventricle dilatation, Hypoplasia of the corpus... |
ORPHA:420179 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Femur fracture, Hydrocephalus, Recurrent pneumonia, Decreased circulating total... |
OMIM:612301 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Single transverse palmar crease, Microcephaly, Squared iliac bones, Small hand, Hypop... |
OMIM:611209 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Single transverse palmar crease, Brushfield spots, Metatarsus adductus, Macrogy... |
OMIM:614866 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Aggressive behavior, Cerebral atrophy, Leukoencephalopathy, Lateral ven... |
ORPHA:572798 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Lateral ventricle dilatation, Talipes equinovarus |
OMIM:256850 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Tapered finger, Hypoplastic toenails, Short thumb, Synop... |
ORPHA:477993 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle... |
OMIM:613154 |
| Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, G... |
ORPHA:263487 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Sparse eyebrow, Long fingers, Cortical dysplasia, Lateral ventricle di... |
OMIM:617557 |
| Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, ... |
OMIM:270400 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Respiratory insufficiency, Colpocephaly, Talipes equinovarus, Hypoplasia of the cor... |
OMIM:617260 |
| Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Sparse eyebrow, Low posterior hairline, Deep palmar crease, Lateral... |
OMIM:619745 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Aspiration, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Abno... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Aspiration, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Abno... |
ORPHA:353277 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Hypertrichosis, Shor... |
OMIM:619479 |
| Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Postaxial polydactyly, Trichiasis, Microcephaly, Pigmentary retinopathy, C... |
OMIM:618460 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Arachnodactyly, Highly arched eyebrow, Coxa valga, Elbow dislocation, Microcephaly, Metaphyseal w... |
OMIM:620083 |
| X-Linked Intellectual Disability, Wilson Type |
|
Abnormal position of hair whorl, Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
| Aicardi Syndrome |
|
Proximal placement of thumb, Microcephaly, Dilated third ventricle, Spina bifida, Partial agenesi... |
OMIM:304050 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... |
ORPHA:2822 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpoc... |
OMIM:618820 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Highly arched eyebrow, Periventricular heterotopia, Low anterior hairline, Abnorma... |
ORPHA:75857 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Absent septum pellucidum, Microcephaly, Elbow flexion contract... |
OMIM:300868 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Broad hallux, Sandal gap, Tapered finger, Abnormal repetitive mannerisms, Small ha... |
OMIM:615873 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Microcephaly, Lateral ventricle dilatation, Short umb... |
OMIM:618367 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Deep palmar crease, Lateral ventricle d... |
ORPHA:293725 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Simplified gyral pattern, Emphysema, Decreased circulating IgG level, Arachnodactyly, Sparse eyeb... |
ORPHA:500150 |
| Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... |
OMIM:619487 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Hyperpigmented streaks |
OMIM:300952 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention def... |
OMIM:619575 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
| Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Congenital hip dislocation, Microcephaly, Periventricular het... |
OMIM:606170 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Clinodactyly of the 5th finger, Pachygyria, Agenesis of corpus callosum, Self-mutilati... |
OMIM:607872 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Hydrocephalus, Pigmentar... |
OMIM:309801 |
| Congenital Ptosis |
|
Cafe-au-lait spot, Piebaldism, Long eyelashes |
ORPHA:91411 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Caudate atrophy, ... |
ORPHA:2388 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Sparse axillary hair, Sparse pubic hair, 3-4 finger cutaneous syndactyly, 2-3 ... |
OMIM:181270 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Microcephaly, Sparse eyebrow, Lateral ventricle dilatation,... |
OMIM:619869 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Highly arched eyebrow, Microcephaly, Sparse eyebrow, Hydrocephalus, P... |
OMIM:147920 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus callosum, Abnormal repetitive m... |
ORPHA:261537 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus c... |
OMIM:301043 |
| Keppen-Lubinsky Syndrome |
|
Microcephaly, Recurrent pneumonia, Upper airway obstruction, Respiratory insufficiency, Lateral v... |
OMIM:614098 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Asthma, Broad first metata... |
OMIM:619534 |
