Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Foxg1 Syndrome |
|
Impaired social interactions, Stereotypical hand wringing, Absent speech, Abnormal repetitive man... |
ORPHA:561854 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Behavioral Variant Of Frontotemporal Dementia |
|
Collectionism, EEG with continuous slow activity, Echolalia, Abnormal repetitive mannerisms |
ORPHA:275864 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, Shyness |
ORPHA:280763 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Delayed speech and language development, Repetitive compulsive behavior, Abnormal repetitive mann... |
ORPHA:352490 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Reduced eye contact, Abnormal repetitive mann... |
ORPHA:411986 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity grade 4, EEG with series of focal spikes, Delayed speech and l... |
ORPHA:168491 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Absent speech, Impaired social interactions |
ORPHA:168782 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:85277 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
5Q14.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:228384 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
EEG abnormality, Delayed speech and language development, Repetitive compulsive behavior, Speech ... |
ORPHA:391372 |
Lamb-Shaffer Syndrome |
|
Delayed speech and language development, Abnormal social behavior, Abnormal repetitive mannerisms |
ORPHA:530983 |
Christianson Syndrome |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:85278 |
Macrocephaly-Developmental Delay Syndrome |
|
Delayed speech and language development, EEG with generalized slow activity, Abnormal repetitive ... |
ORPHA:397612 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Severe expressive language delay, Severe receptive language delay, Echolalia, Abnormal repetitive... |
ORPHA:3306 |
Rett Syndrome |
|
EEG abnormality, Stereotypical hand wringing, Abnormal repetitive mannerisms, Absent speech, Incr... |
ORPHA:778 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
4Q21 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:238750 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Absent speech, Polymicrogyria |
ORPHA:500159 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Impaired social interactions, Delayed speech and language development, Recurrent hand fl... |
ORPHA:449291 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, EEG abnormality, Severe receptive language delay, Hypsarrhythm... |
ORPHA:457351 |
2Q23.1 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:228402 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:313892 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:457240 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Echolalia, Abnormal repetitive mannerisms |
ORPHA:927 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:391307 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... |
ORPHA:261197 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Impaired social interactions, Simplified gyral pattern, Lissencephaly, Abnormal repetitive manner... |
ORPHA:300570 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Abnormal repetitive mannerisms |
ORPHA:79264 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
22Q11.2 Duplication Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Childhood Absence Epilepsy |
|
Punding, Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz) |
ORPHA:64280 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Smith-Magenis Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, EEG abnormality |
ORPHA:819 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Absent speech, Compulsive behaviors |
ORPHA:401777 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:261144 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal repetitive mannerisms, Metabolic acidosis |
ORPHA:79155 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with series of focal spikes, EEG abnormality, Repetitive compulsive behavior, EEG with focal ... |
ORPHA:522077 |
Bilateral Generalized Polymicrogyria |
|
Abnormal repetitive mannerisms |
ORPHA:208447 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
3P25.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech |
ORPHA:435638 |
Transketolase Deficiency |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, Compulsiv... |
ORPHA:488618 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
EEG with focal spikes, Interictal epileptiform activity, Abnormal repetitive mannerisms, Increase... |
ORPHA:98784 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:10 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
White-Sutton Syndrome |
|
EEG abnormality, Delayed speech and language development, Absent speech, Compulsive behaviors, Ab... |
ORPHA:468678 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Bruxism, Repetitive compulsive behavior, Absent speech |
OMIM:300260 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Pachygyria |
ORPHA:572013 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech |
ORPHA:457279 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Absent speech, Compulsive behaviors |
ORPHA:476126 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Impaired social interactions, Delayed speech and language development, Abnormal soc... |
ORPHA:177907 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech |
OMIM:616393 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, EEG abnormality |
ORPHA:2479 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:496641 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
7Q11.23 Microduplication Syndrome |
|
Impaired social interactions, Simplified gyral pattern, Delayed speech and language development, ... |
ORPHA:96121 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Kleefstra Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:261494 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
2Q37 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Cystinosis |
|
Abnormal repetitive mannerisms |
ORPHA:213 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, No social interaction, Absent speech |
ORPHA:508533 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Abnormality of neuronal ... |
ORPHA:464311 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hypsarrhythmia, Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:447997 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Repetitive compulsive behavior, Absent speech, Abnormal ... |
ORPHA:513456 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
Dilated Cardiomyopathy With Ataxia |
|
Increased serum lactate, Repetitive compulsive behavior |
ORPHA:66634 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Wiedemann-Steiner Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:319182 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Abnormal repetitive manneri... |
ORPHA:468631 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:464306 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Echolalia, EEG abnormality, Impaired social interactions, Delayed speech and language development... |
OMIM:619475 |
Nmda Receptor Encephalitis |
|
Language impairment, EEG with temporal sharp slow waves, No social interaction, Abnormal repetiti... |
ORPHA:217253 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
EEG abnormality, Impaired social interactions, Delayed speech and language development, Absent sp... |
ORPHA:353281 |
Oculocerebrorenal Syndrome Of Lowe |
|
EEG abnormality, Abnormal repetitive mannerisms, Proximal renal tubular acidosis, Increased serum... |
ORPHA:534 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Choreoacanthocytosis |
|
Aggressive behavior, Head-banging, Self-injurious behavior, Hair-pulling, Apathy, Emotional labil... |
ORPHA:2388 |
1P36 Deletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, EEG abnor... |
ORPHA:1606 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
EEG abnormality, Impaired social interactions, Delayed speech and language development, Absent sp... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
EEG abnormality, Impaired social interactions, Delayed speech and language development, Absent sp... |
ORPHA:353277 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior |
OMIM:607485 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Mucopolysaccharidosis Type 2 |
|
Decreased nerve conduction velocity, Abnormal repetitive mannerisms |
ORPHA:580 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... |
OMIM:309000 |
Tuberous Sclerosis Complex |
|
Repetitive compulsive behavior, Abnormal social behavior |
ORPHA:805 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Monosomy 22Q13.3 |
|
Delayed speech and language development, Hair-pulling |
ORPHA:48652 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, EEG abnormality, Absent speech, Abnormal repetitive mannerisms, Expr... |
ORPHA:261537 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Impaired social interactions, Abnormal repetitive mannerisms, EEG wi... |
ORPHA:2152 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, EEG abnormality, Absent speech, Abnormal repetitive mannerisms, Expr... |
ORPHA:261552 |
Norrie Disease |
|
Abnormal repetitive mannerisms, EEG abnormality |
ORPHA:649 |