Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... |
OMIM:246700 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Sple... |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, General... |
ORPHA:363400 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... |
OMIM:618156 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... |
OMIM:607765 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Hypertriglyceridemia |
OMIM:246650 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat... |
OMIM:212065 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:616834 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Hyperactivity, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hepatomegaly, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosi... |
ORPHA:71 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tissue, Increased adi... |
ORPHA:2457 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Dysmetria, Spastic gait, Elevated circulating creatine kinase concentration,... |
ORPHA:96180 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Failure to thrive, Hypoc... |
ORPHA:14 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Joint contracture of the hand, Arthrogryposis multiplex congenita, Ing... |
ORPHA:352490 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Abnormal adipose tissue mo... |
ORPHA:79324 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age |
OMIM:609425 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Elbow flexion contracture |
OMIM:619470 |
Juvenile Huntington Disease |
|
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... |
ORPHA:248111 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Lethargy |
OMIM:274270 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Elevated circulating creatine kinase concentration, Knee flexion contracture, Hy... |
OMIM:616809 |
Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight |
OMIM:618342 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Lethargy |
OMIM:605899 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity |
ORPHA:412035 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Inguinal hernia, Congenital diaphragmati... |
OMIM:614294 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Failure to thrive, Hyperactivity, Unsteady gait, Broad-based gait |
OMIM:617865 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder, Maternal hyperphenylalaninemia, Hyperphe... |
OMIM:261600 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Inguinal hernia |
ORPHA:485350 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Ataxia, Broad-based gait |
ORPHA:411515 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic necrosis, Abnormal circulating acetylcarnitine concentration, Mildly e... |
ORPHA:71212 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Arthrogryposis multiplex congenita, Hyperactivity, Hepatic steatosis, Obesity |
ORPHA:254346 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Athetosis, Hepatomegaly, Microvesicular hepatic steatosis, Dystonia, Limb joint contracture, Ling... |
ORPHA:404454 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hamstring contractures, Abnormal circulating fatty-acid concentratio... |
ORPHA:139396 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity |
OMIM:615286 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia, Cholestatic liver disease,... |
OMIM:270400 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Hypocholesterolemia, Reduced circulating transferrin concentration, C... |
ORPHA:90363 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Hepatomegaly, Hernia, Splenomegaly |
OMIM:252930 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Neonatal hyperbilirubinemia, Failure to thrive, Truncal obesity, Hyper... |
ORPHA:73272 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Obesity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extre... |
OMIM:615673 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Hernia |
ORPHA:3306 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia |
OMIM:612716 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Legius Syndrome |
|
Dystonia, Xanthelasma, Hyperactivity, Attention deficit hyperactivity disorder, Multiple lipomas |
ORPHA:137605 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hepatomegaly, Hypoproteinemia, Small for gestational age, Elevated circulating creatine... |
ORPHA:26793 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Broad-based gait |
OMIM:300958 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia |
OMIM:614104 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Failure to thrive, Shuffling gait, Cholelithiasis, Hyperactivity, Flexion contracture, Decreased ... |
OMIM:300534 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Flexion contracture, Unsteady gait |
ORPHA:35069 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Difficulty walking, Small for gestational age, Inguinal hernia |
OMIM:123450 |
Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, Hyperactivity, Congenital finger flexion contractures |
ORPHA:166108 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Hiatus hernia, Neonatal hyperbilirubinemia |
OMIM:609727 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity |
ORPHA:369939 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss |
OMIM:275000 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Abnormal circulating creatine concentration, Hyperactivity, Ataxia |
ORPHA:52503 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Hernia, Amelogenesis imperfecta, Hyperactivity, Enamel hypoplasia, Exocrine pa... |
OMIM:617052 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Hyperactivity, Broad-based gait, Camptodactyly of finger, Obesity, Inguinal hernia |
ORPHA:85293 |
Intellectual Disability-Strabismus Syndrome |
|
Gait disturbance, Congenital finger flexion contractures, Failure to thrive, Congenital diaphragm... |
ORPHA:363528 |
Mucopolysaccharidosis, Type Iiid |
|
Hyperactivity, Hepatomegaly, Flexion contracture, Splenomegaly |
OMIM:252940 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Glass Syndrome |
|
Hyperactivity, Inguinal hernia, Broad-based gait, Camptodactyly |
OMIM:612313 |
16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Hyperactivity, Attention deficit hyperactivity disorder, Abnormality of the in... |
ORPHA:485405 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity |
OMIM:619239 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Hyperactivity, Elevated hepatic transaminase, Jaun... |
ORPHA:525731 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Flexion contracture |
OMIM:309520 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity, Ventral hernia, Obesity, Inguinal hernia |
ORPHA:468678 |
Argininemia |
|
Hepatomegaly, Portal fibrosis, Spastic gait, Micronodular cirrhosis, Hyperammonemia, Hyperactivit... |
OMIM:207800 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Hyperactivity |
OMIM:256800 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Obesity, Hepatomegaly, Ataxia |
ORPHA:163681 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia |
OMIM:618314 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Failure to thrive, Large for gestational age, Hyperactivity, Attention deficit hyperactivity diso... |
OMIM:607721 |
Brooks-Wisniewski-Brown syndrome |
|
Hyperactivity, Flexion contracture, Small for gestational age |
OMIM:300612 |
Hyperlysinemia |
|
Hypoornithinemia, Failure to thrive, Dysmetria, Hyperammonemia, Hyperactivity, Tip-toe gait, Hype... |
ORPHA:2203 |
Monosomy 9Q22.3 |
|
Hyperactivity, Umbilical hernia, Large for gestational age |
ORPHA:77301 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Gait disturbance, Small for gestational age, Failure to thrive, Hyperactivity, Multiple joint con... |
ORPHA:464306 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Failure to thrive, Hyperactivity, Episodic ataxia, Umbilical hernia |
ORPHA:1934 |
Distal Monosomy 12Q |
|
Failure to thrive in infancy, Annular pancreas, Hyperactivity, Biliary atresia, Obesity, Elbow fl... |
ORPHA:96149 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age |
ORPHA:424 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Weight loss |
ORPHA:99819 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol |
ORPHA:401973 |
Choreoacanthocytosis |
|
Hepatomegaly, Lingual dystonia, Loss of ambulation, Elevated circulating creatine kinase concentr... |
ORPHA:2388 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Inguinal hernia |
ORPHA:457284 |
Tuberous Sclerosis Complex |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hepatic cysts, Shagreen patch |
ORPHA:805 |
Monosomy 22Q13.3 |
|
Hyperactivity, Obesity, Umbilical hernia |
ORPHA:48652 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Multiple joint contractures, Hyperactivity |
ORPHA:447997 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Fasciitis, Hyperactivity, Atypical scarring of skin, Difficulty walking |
ORPHA:642 |
Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |