Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hyperlysinemia, Type I |
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Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity of the femur... |
OMIM:610539 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e... |
OMIM:601382 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Hyperprolinemia, Type I |
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Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Prolinuria... |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Squalene Synthase Deficiency |
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Posteriorly rotated ears, Optic nerve hypoplasia, Hypospadias, Increased circulating farnesol con... |
OMIM:618156 |
Landau-Kleffner Syndrome |
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Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... |
ORPHA:98818 |
Potocki-Lupski Syndrome |
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Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Hypocholesterolemia, Abnormal repetiti... |
OMIM:610883 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hartnup Disorder |
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Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac... |
OMIM:234500 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Phenylketonuria |
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Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, EEG with generalized epileptifo... |
OMIM:619827 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Ravine Syndrome |
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Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Chromosome 3Q29 Deletion Syndrome |
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Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Tapered finger, Long fingers, Low-s... |
OMIM:609425 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Intellectual Developmental Disorder, X-Linked 101 |
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Clinodactyly, Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Aganglionic megacolon, Long fibula, Cognitive impairment, Abnormal metaphysis morphology, Lymphop... |
ORPHA:935 |
Rasmussen Subacute Encephalitis |
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Hyperactivity, Increased theta frequency activity in EEG, EEG with focal epileptiform discharges,... |
ORPHA:1929 |
Late-Infantile/Juvenile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Peroxisome Biogenesis Disorder 3B |
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Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... |
OMIM:266510 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Sandal gap, Aggressive behavior, Diminished ability to concentrate, Recurrent hand... |
OMIM:615516 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
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Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious behavior, Comp... |
OMIM:619467 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, Preaxial polydactyly, EEG wi... |
ORPHA:163681 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive... |
OMIM:615541 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Smith-Magenis Syndrome |
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Hyperactivity, Hypertriglyceridemia, Brachydactyly, Self hugging, Head-banging, EEG abnormality, ... |
OMIM:182290 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... |
OMIM:620141 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Chromosome Xq13 Duplication Syndrome |
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Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Autoimmune thrombocytopenia, Metata... |
OMIM:301069 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Alg12-Cdg |
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Hyponatremia, Abnormal pinna morphology, Hypospadias, Sandal gap, Proximal placement of thumb, Lo... |
ORPHA:79324 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Short attention span, Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
Chylomicron Retention Disease |
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Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Dubowitz Syndrome |
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Syndactyly, Hyperactivity, Short attention span, Aplastic anemia, Hypospadias, Protruding ear, Ac... |
OMIM:223370 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... |
ORPHA:168491 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Lymphopenia, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Irritability, Macrotia, Abno... |
ORPHA:391307 |
Optic Atrophy 11 |
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Hyperactivity, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Splenomegaly,... |
OMIM:617302 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Micropenis, Hypocholesterolemia |
OMIM:618810 |
Smith-Lemli-Opitz Syndrome |
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Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypoalbuminemi... |
OMIM:270400 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... |
OMIM:620242 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Broad finger, Abnormal auditory evoked potentials |
OMIM:617523 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Short attention span, Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural h... |
ORPHA:73272 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga |
OMIM:109120 |
Mend Syndrome |
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Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh... |
ORPHA:401973 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Neurogenic bladder, Aggressive behavior, Progressive hearing impairment, Disinhibi... |
ORPHA:43 |
Charcot-Marie-Tooth Disease Type 1F |
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Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence,... |
ORPHA:101085 |
Congenital Disorder Of Glycosylation, Type Ia |
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Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, ... |
OMIM:212065 |
Arthrogryposis, Distal, Type 2A |
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Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai... |
OMIM:193700 |
Dyggve-Melchior-Clausen Disease |
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Epiphyseal dysplasia, Hyperactivity, Abnormal pelvis bone morphology, Glenoid fossa hypoplasia, I... |
ORPHA:239 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irregul... |
OMIM:619260 |
Chronic Bilirubin Encephalopathy |
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Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Aggressive behavior... |
ORPHA:909 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Aggressive behavior, EEG abnormality, Progressive language deterioration, Attentio... |
OMIM:610042 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Sensorineu... |
ORPHA:760 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti... |
OMIM:252920 |
Infantile Krabbe Disease |
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Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Short attention span, Hyperactivity, Aggressive behavior, Macrotia, Depression, Self-injurious be... |
ORPHA:449291 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... |
ORPHA:14 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Urinary incontinence, Progressive neurologic dete... |
ORPHA:206448 |
Kaufman Oculocerebrofacial Syndrome |
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Optic disc pallor, Congenital hip dislocation, Abnormal pinna morphology, Metatarsus adductus, Lo... |
OMIM:244450 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Tangier Disease |
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Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Thrombocy... |
ORPHA:31150 |
Insulin-Like Growth Factor I Deficiency |
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Clinodactyly of the 5th finger, Short attention span, Hyperactivity, Sensorineural hearing impair... |
OMIM:608747 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Trisomy 10P |
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Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst ... |
ORPHA:171929 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Recurrent hand flapping,... |
OMIM:617600 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability |
OMIM:616881 |
Spastic Paraplegia 29, Autosomal Dominant |
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Hyperactivity, Urinary incontinence, Sensorineural hearing impairment, Urinary hesitancy, Urinary... |
OMIM:609727 |
Secondary Intestinal Lymphangiectasia |
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Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Anemia, Inc... |
ORPHA:90321 |
Cockayne Syndrome A |
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Hip contracture, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory e... |
OMIM:216400 |
Legius Syndrome |
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Short attention span, Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Diaphyseal dyspla... |
ORPHA:137605 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Cockayne Syndrome B |
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Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
Argininemia |
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Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... |
OMIM:207800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Choreoacanthocytosis |
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Elevated circulating creatine kinase concentration, Compulsive behaviors, Decreased amplitude of ... |
ORPHA:2388 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Urinary incontinence, Acanthocytosis, Optic atrophy, Phonic tics, Depression, Deme... |
OMIM:234200 |
Histidinemia |
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Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Short attention... |
ORPHA:642 |