Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Atypical Teratoid Rhabdoid Tumor |
|
Reduced consciousness/confusion, Macrocephaly, Apathy, Hydrocephalus, Irritability, Muscle weakness |
ORPHA:99966 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Methylmalonic Acidemia With Homocystinuria |
|
Skin rash, Hydrocephalus, Failure to thrive, Microcephaly, Lethargy |
ORPHA:26 |
Leptin Receptor Deficiency |
|
Emotional lability, Delayed puberty, Abnormal hypothalamus morphology, Short stature, Decreased r... |
OMIM:614963 |
Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Increased CSF protein concentration, Gliosis, Confusion, Respiratory failure requir... |
ORPHA:204 |
Megalencephaly, Autosomal Dominant |
|
Macrocephaly, Hydrocephalus |
OMIM:155350 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Macrocephaly, Slender build, Astrocytosis, Ventriculomegaly |
OMIM:611087 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Macrocephaly, Hydrocephalus |
OMIM:615938 |
Inherited Creutzfeldt-Jakob Disease |
|
Emotional lability, Apathy, Astrocytosis, Increased CSF protein concentration, Anxiety, Irritabil... |
ORPHA:282166 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microcephaly, Growth delay, Lethargy, Agenesis of corpus callosum |
OMIM:274270 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Macrocephaly, Hydrocephalus |
OMIM:615937 |
Craniopharyngioma |
|
Delayed puberty, Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypotha... |
ORPHA:54595 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Macrocephaly, Microcephaly, Hydrocephalus |
OMIM:618709 |
Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Complete or near-complete absence of s... |
ORPHA:70593 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Neutropenia, Intrauterine growth retardation, Excessive daytime somnolence, Macroc... |
ORPHA:2169 |
Lissencephaly 4 |
|
Colpocephaly, Primary microcephaly, Short stature, Growth delay, Agenesis of corpus callosum |
OMIM:614019 |
Dopa-Responsive Dystonia |
|
Emotional lability, Agoraphobia, Poor head control, Abnormal CSF biopterin concentration, Anxiety... |
ORPHA:255 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Emotional lability, Cessation of head growth, Macrocephaly, Cerebral hypomyelination, CNS demyeli... |
OMIM:603896 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Progressive microcephaly, Respiratory insufficiency, Irritability, Apnea, Failure to thrive, Micr... |
OMIM:618226 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Developmental And Epileptic Encephalopathy 36 |
|
Macrocephaly, Self-mutilation, Hydrocephalus, Microretrognathia, Microcephaly, Delayed CNS myelin... |
OMIM:300884 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Neonatal death, Mild fetal ventriculomegaly, Lethargy, Agenesis of cor... |
OMIM:610498 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ventriculomegaly, Apneic episodes precipitated by illness, fatigue, st... |
OMIM:312170 |
Behavioral Variant Of Frontotemporal Dementia |
|
Apathy, Astrocytosis, Abulia, Irritability, Emotional blunting, Aggressive behavior |
ORPHA:275864 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Masa Syndrome |
|
Macrocephaly, Hydrocephalus, Short stature, Ventriculomegaly, Microcephaly, Agenesis of corpus ca... |
OMIM:303350 |
Pelizaeus-Merzbacher Disease |
|
Congenital laryngeal stridor, CNS hypomyelination, Apathy, Sudanophilic leukodystrophy, Abnormal ... |
OMIM:312080 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:604213 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, CNS demyelination, Oculomotor nerve palsy, Abnormal ... |
ORPHA:217260 |
Immunodeficiency 102 |
|
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... |
OMIM:301082 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... |
OMIM:312863 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia, Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight, Poor head control |
ORPHA:324422 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Self-mutilation, Retrognathia, Abnormality of the pituitary gland, Abnormal hypoth... |
ORPHA:314621 |
Glycine Encephalopathy 1 |
|
Aggressive behavior, Lethargy, Agenesis of corpus callosum, Irritability |
OMIM:605899 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnormality of neutrophils, Abnormal ly... |
ORPHA:229717 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... |
OMIM:612444 |
Gaba-Transaminase Deficiency |
|
Lethargy, Agenesis of corpus callosum, Leukodystrophy, Retrognathia |
OMIM:613163 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Muscle weakness, Lethargy, Increased CSF lactate |
OMIM:613710 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Failure to th... |
ORPHA:277 |
Glut1 Deficiency Syndrome 1 |
|
Secondary microcephaly, Hypoglycorrhachia, Paroxysmal lethargy, Confusion, Lethargy |
OMIM:606777 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Micrognathia, Hydrocephalus |
ORPHA:1538 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Abnormal hypothalamus morphology, Pustule, Increased CSF protein ... |
ORPHA:68 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Lower limb muscle weakness, Failure to thrive, Upper limb muscle weakness, Basal ga... |
ORPHA:225154 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis, Confusion, Herpes simplex encephalitis |
OMIM:613002 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:611808 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytop... |
OMIM:619302 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Decreased circulating IgA level,... |
OMIM:613502 |
Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Lethargy, Coma, Hydrocephalus |
ORPHA:73256 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Alexander Disease |
|
Apathy, Increased CSF protein concentration, Hydrocephalus, Diffuse demyelination of the cerebral... |
OMIM:203450 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Severe Canavan Disease |
|
Macrocephaly, Lethargy, Poor head control, Irritability |
ORPHA:314911 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Respiratory distress, Microcephaly, Lethargy |
ORPHA:26792 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Aggressive behavior, Apathy, Astrocytosis |
OMIM:600795 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Agitation |
OMIM:309548 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Abnormal myelination, Ventriculomegaly, Pneumonia, Agene... |
ORPHA:85179 |
Febrile Infection-Related Epilepsy Syndrome |
|
Cough, Sinusitis, Lethargy |
ORPHA:163703 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Apnea, Sleep apnea, Failure to thrive, Ventriculomegaly, Lethargy |
OMIM:618228 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Growth delay, Severe demy... |
ORPHA:488635 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... |
OMIM:612692 |
Fraxe Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
Pontocerebellar Hypoplasia, Type 6 |
|
Poor head control, Progressive microcephaly, Apnea, Failure to thrive, Microcephaly, Increased CS... |
OMIM:611523 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Progressive microcephaly, Abnormal erythrocyte morphology, Hypoglycorrhachia, Central apnea, Conf... |
ORPHA:71277 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Anemia, Neutropenia, Shor... |
ORPHA:47 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Macrocephaly, Apnea, Increased CSF lactate, Lethargy, Leukodystrophy, Ophthalmoplegia |
OMIM:618225 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Progressive microcephaly, Hydrocephalus, Respiratory insufficiency, Intrauter... |
OMIM:610333 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Chronic pulmonary obstruc... |
OMIM:612650 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Failure to thrive, Respiratory distress, Sidero... |
OMIM:613561 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Macrocephaly, Dandy-Walker malformation, Hydrocephalus |
OMIM:607091 |
Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Abnormal axonemal organization of respiratory motile cilia, Chroni... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Decreased nasal nitric oxide, Recurrent otitis ... |
OMIM:615294 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Failure to thrive, Eosinophilia... |
OMIM:226990 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, La... |
OMIM:609637 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Emotional lability, Hypothalamic atrophy, Overweight, Lower limb muscle weakness, Lateral ventric... |
ORPHA:2822 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Chronic sinusitis, Chronic pulmonary obstruction, Chronic rhinitis... |
OMIM:616481 |
Pontocerebellar Hypoplasia, Type 1A |
|
Respiratory insufficiency, Intercostal muscle weakness, Lateral ventricle dilatation, Demyelinati... |
OMIM:607596 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, Skin rash, Cough, Arthritis, Failure to thrive, Hepatitis, Sinusitis, Recur... |
ORPHA:33110 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Non Rare In Europe: Central Precocious Puberty |
|
Hydrocephalus, Acne, Hypothalamic hamartoma, Increased circulating gonadotropin level, Increased ... |
ORPHA:759 |
Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Absent oute... |
OMIM:614017 |
Pallister-Hall-Like Syndrome |
|
Macrocephaly, Glioma, Hydrocephalus, Occipital encephalocele, Short stature, Hypothalamic hamarto... |
OMIM:241800 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Hydrocephalus, Muscle weakness, Microcephaly, Hypoplasia of the maxilla |
OMIM:618302 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Lethargy, Intrauterine growth retardation |
OMIM:617065 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy, Short stature, Growth delay |
OMIM:618573 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Macrocephaly, Anxiety, Self-injurious behavior, Interhypothalamic adhesion, Agenesis of corpus ca... |
OMIM:618929 |
Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Chronic sinusitis, Respiratory insufficiency due to defective cili... |
OMIM:615504 |
Fragile X Syndrome |
|
Chronic otitis media, Macrocephaly, Anxiety, Mandibular prognathia, Self-injurious behavior, Sinu... |
ORPHA:908 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Chronic sinusitis, Asplenia, Communicating hydrocephalus, Chronic rhinitis,... |
OMIM:244400 |
1Q21.1 Microduplication Syndrome |
|
Macrocephaly, Failure to thrive, Hydrocephalus |
ORPHA:250994 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Emotional lability, Delirium, Anxiety, Drowsiness, Failure to thrive, Respiratory distress, Micro... |
ORPHA:927 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Periodontitis, Hydrocephalus |
ORPHA:1008 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Ventriculomegaly, Irregular respiration, Respiratory distress, Gliosis, Increased CSF l... |
OMIM:604377 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Band Heterotopia |
|
Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Agenesis of corpus c... |
OMIM:600348 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Microcephaly, Hydrocephalus |
OMIM:619470 |
Dystonia 30 |
|
Hypothalamic hamartoma, Aggressive behavior |
OMIM:619291 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Intrauterine growth retardation, Short stature, Irritability, Ventri... |
OMIM:619833 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress, Confusion, Lethargy, Aggressive behavior, Coma |
OMIM:237310 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malar flattening, Decreased circulating IgA level, Short stature, Reduced natural killer cell cou... |
OMIM:242860 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Phenylketonuria |
|
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... |
OMIM:261600 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Skin rash, Autoimmune t... |
ORPHA:572 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Decreas... |
OMIM:618063 |
Felty Syndrome |
|
Chronic otitis media, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morph... |
ORPHA:47612 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea, Intrauterine growth retardation, Ventriculomegaly, Microcephaly, Growth delay... |
ORPHA:765 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased CSF leucine concentration, Increased CSF valine concentration, Microcephaly, Increased ... |
OMIM:246900 |
Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Absent/shortened outer dynein arms, Sinusitis, Abnormal respiratory mo... |
OMIM:610852 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy, Secondary microcephaly |
OMIM:617829 |
Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... |
ORPHA:443811 |
Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
Selective Igm Deficiency |
|
Chronic sinusitis, Decreased specific antibody response to vaccination, Decreased proportion of C... |
ORPHA:331235 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
Congenital Hydrocephalus |
|
Colpocephaly, Macrocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Ciliary Dyskinesia, Primary, 17 |
|
Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis media, Bronchiectasis, Dynein arm de... |
OMIM:614679 |
Aspergillosis |
|
Dyspnea, Abnormality on pulmonary function testing, Chronic pulmonary obstruction, Cough, Increas... |
ORPHA:1163 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Anemia, Failure to thrive in infancy, Intrauterine growth retardation, Ventriculom... |
ORPHA:858 |
Cach Syndrome |
|
Hepatosplenomegaly, T2 hypointense thalamus, Optic neuritis, Apathy, Dysmyelinating leukodystroph... |
ORPHA:135 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ven... |
OMIM:617397 |
Ciliary Dyskinesia, Primary, 40 |
|
Chronic sinusitis, Cough, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... |
OMIM:618300 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... |
ORPHA:96369 |
Hyperprolinemia, Type I |
|
Aggressive behavior, Hyperactivity |
OMIM:239500 |
Immunodeficiency 51 |
|
Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte morphology, Chronic oral candidias... |
OMIM:613953 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Small for gestational age, Macrocephaly, Hydrocephalus, Anxiety, Short stat... |
OMIM:609757 |
Hemidystonia-Hemiatrophy Syndrome |
|
Rhizomelic leg shortening, Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus m... |
ORPHA:306741 |
Temple Syndrome |
|
Small for gestational age, Hydrocephalus, Short stature, Relative macrocephaly, Decreased respons... |
ORPHA:254516 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Chronic rhinitis, Bronchiecta... |
OMIM:618699 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Drowsiness, Increased body weight, Lethargy, Generalized muscle weakness, Coma |
ORPHA:276608 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic sinusitis, Respiratory insufficiency, Cough, Respiratory insufficiency due to defective c... |
OMIM:616037 |
Primary Ciliary Dyskinesia |
|
Chronic otitis media, Neonatal respiratory distress, Chronic sinusitis, Asplenia, Hydrocephalus, ... |
ORPHA:244 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Macrocephaly, Fatigable weakness of neck muscles, Cachexia, Proximal muscle weakness, Lethargy, F... |
ORPHA:42 |
Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Hydrocephalus, Cachexia, Failure to thrive, Progressive m... |
ORPHA:363717 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Agenesis of corpus callosum, Irritability, Failure to thrive |
OMIM:250620 |
Developmental And Epileptic Encephalopathy 41 |
|
Irritability, Delayed eruption of teeth, Microcephaly, Delayed CNS myelination, Lethargy |
OMIM:617105 |
Frontal Encephalocele |
|
Encephalocele, Macrocephaly, Spina bifida, Hydrocephalus, Leukodystrophy |
ORPHA:1931 |
Fried Syndrome |
|
Aggressive behavior, Hydrocephalus |
ORPHA:85335 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Lethargy, Weight loss, Growth delay |
ORPHA:30925 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Abnormal respiratory system physiology, Chronic rhinitis, Absent respiratory ciliary axoneme radi... |
OMIM:242670 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Respiratory insufficiency, Lethargy |
OMIM:618224 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Abnormal axonemal organization of respiratory motile cilia, Chroni... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia... |
OMIM:606763 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Peripheral demyelination, Gliosis, Euphoria, Aggressive behavior |
OMIM:221770 |
Martsolf Syndrome 2 |
|
Microcephaly, Decreased body weight, Short stature, Lateral ventricle dilatation |
OMIM:619420 |
Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Tachypnea, Perioral eczema, Irritability, Respiratory distress, Thrombocyto... |
ORPHA:79242 |
Cleft Lip With Or Without Cleft Palate |
|
Recurrent otitis media, Chronic sinusitis |
ORPHA:1991 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Skin rash, Irritability, Ventriculomegaly, Gliosis, Pancytopenia, Lethargy, Aggressive behavior, ... |
OMIM:618321 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Personality disorder, Hyperactivity |
ORPHA:2382 |
Cyclic Vomiting Syndrome |
|
Muscle weakness, Lethargy, Microcephaly, Growth delay |
OMIM:500007 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Bronchiectasis, Chronic pulmonary obstruction |
OMIM:253240 |
Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Lethargy, Progressive external ophthalmoplegia |
ORPHA:254857 |
Riddle Syndrome |
|
Emotional lability, Decreased circulating total IgM, Chronic sinusitis, Restrictive ventilatory d... |
ORPHA:420741 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Confusion, Herpes simplex encephalitis |
OMIM:617900 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Leigh Syndrome With Cardiomyopathy |
|
Fluctuations in consciousness, Anemia, Failure to thrive, Ventriculomegaly, Apnea, Central hypove... |
ORPHA:70474 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Anemia, External ophthalmoplegia, Failure to thrive, Muscle weakness, Respiratory failure, Increa... |
OMIM:615838 |
Ciliary Dyskinesia, Primary, 10 |
|
Chronic otitis media, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Ciliary d... |
OMIM:612518 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:304100 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Poor head control, Respiratory insufficiency, Respiratory distress, Increased CSF glycine concent... |
OMIM:614299 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Macrocephaly, Short stature, Secondary microcephaly, Hydrocephalus |
OMIM:618174 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Respiratory insufficiency, Failure to thrive, Lethargy, Coma |
ORPHA:28 |
Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:1532 |
Carnitine Deficiency, Systemic Primary |
|
Excessive daytime somnolence, Proximal muscle weakness, Failure to thrive, Respiratory distress, ... |
OMIM:212140 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Loss of consciousness, Muscle weakness, Hypoglycemic coma, Lethargy, Large for gestational age, D... |
ORPHA:276580 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration, Irritability |
ORPHA:101150 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Neutropenia, Failure to thrive, Respiratory distress, Thrombocytopenia, Let... |
ORPHA:79312 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Neonatal death |
OMIM:614870 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Delayed CNS myelination, Microcephaly, Secondary microcephaly, Hydrocephalus |
OMIM:615599 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, B lymphocytopenia, Reduced red cell adenosine deaminase lev... |
OMIM:102700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Ophthalmoplegia |
OMIM:618683 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... |
ORPHA:3077 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Macrocephaly, Short stature, Micrognathia, Hydrocephalus |
ORPHA:1516 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse demyelination of the cerebral white matter, Microcephaly, Lateral ventricle dilatation, V... |
ORPHA:77299 |
Multiple Carboxylase Deficiency |
|
Spinal cord posterior columns myelin loss, Skin rash, Limb muscle weakness, Respiratory distress,... |
ORPHA:148 |
Central Diabetes Insipidus |
|
Anxiety, Excessive daytime somnolence, Failure to thrive, Lethargy, Weight loss |
ORPHA:178029 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Insulinoma |
|
Reduced consciousness/confusion, Pituitary prolactin cell adenoma, Fluctuations in consciousness,... |
ORPHA:97279 |
Landau-Kleffner Syndrome |
|
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Depression,... |
ORPHA:98818 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Pharyngitis, Confusion, Increased circulating metamyelocyte count, Incr... |
ORPHA:36234 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Pancreatitis, Neutropenia, Respiratory distress, Thrombocytopenia, Growth delay, Lethargy... |
ORPHA:289916 |
Pontocerebellar Hypoplasia, Type 12 |
|
Primary microcephaly, Lateral ventricle dilatation, Micrognathia |
OMIM:618266 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior |
OMIM:619467 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... |
OMIM:613179 |
Albers-Schönberg Osteopetrosis |
|
Macrocephaly, Hydrocephalus, Anemia, Osteoarthritis, Arthritis, Short stature, Facial palsy, Cari... |
ORPHA:53 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Respiratory insufficiency, Delayed CNS myelination, Microcephaly, Lateral ventricle dilatation |
OMIM:617668 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Anxiety, Short stature, Microcephaly, Aggressive behavior |
OMIM:300558 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Primary microcephaly, Failure to thrive in infancy, Delayed myelination, Intrauterine growth reta... |
ORPHA:284417 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Failure to thrive, Neonatal death, In... |
OMIM:605711 |
Shwachman-Diamond Syndrome |
|
Hypopituitarism, Macrocytic anemia, Carious teeth, Acute myeloid leukemia, Leukopenia, Normocytic... |
ORPHA:811 |
Cyclic Neutropenia |
|
Peritonitis, Pharyngitis, Lymphopenia, Decreased eosinophil count, Sinusitis, Recurrent skin infe... |
ORPHA:2686 |
Biemond Syndrome Ii |
|
Short stature, Hydrocephalus |
OMIM:210350 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Pulmonary arterial hypertension, Astrocytosis, Respiratory insufficiency, Intercostal... |
ORPHA:258 |
Temple Syndrome |
|
Small for gestational age, Overweight, Hydrocephalus, Truncal obesity, Intrauterine growth retard... |
OMIM:616222 |
Propionic Acidemia |
|
Anemia, Pancreatitis, Neutropenia, Short stature, Apnea, Failure to thrive, Thrombocytopenia, Pan... |
OMIM:606054 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Macrocephaly, Lateral ventricle dilatation, Apnea, Muscle weakness, Subependymal cysts, Micrognat... |
OMIM:600721 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Delayed puberty, Decreased circulating IgG2 level, Leukemia, Acute lymp... |
OMIM:208900 |
Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Pleural effusion, Leukocytosis, Leukopenia, Cough, Hypoxemia, Pharyngitis, No... |
ORPHA:36238 |
Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis, Abnormal resp... |
ORPHA:922 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Microcephaly, Delayed CNS myelination, Ophthalmoplegia |
OMIM:618731 |
Susac Syndrome |
|
Apathy, Abnormal emotion/affect behavior, Muscle weakness, Confusion, Lethargy |
ORPHA:838 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Hypoglycemic coma, Lethargy, Loss of consci... |
ORPHA:324575 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Delayed myelination, Secondary microcephaly, Hydrocephalus |
ORPHA:397951 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Macrocephaly at birth, Hydrocephalus |
ORPHA:324416 |
Tubulinopathy-Associated Dysgyria |
|
Macrocephaly, Abnormality of thalamus morphology, Microcephaly, Ventriculomegaly |
ORPHA:467166 |
Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus, Autoimmune thrombocytopenia, CNS demyelinatio... |
OMIM:245200 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Aspiration pneumonia, Severe short stat... |
OMIM:619057 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic sinusitis, Decreased specific pneumococcal antibody level, Liver abscess, Recurrent pneum... |
ORPHA:183675 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Lower limb muscle weakness, Apnea, Failure to thrive, Ventriculomegaly, Microcepha... |
ORPHA:395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Poor head control, Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation, Ventricul... |
OMIM:613153 |
Lig4 Syndrome |
|
Small for gestational age, Chronic sinusitis, Acute lymphoblastic leukemia, Failure to thrive, Th... |
OMIM:606593 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Macrocephaly, Hydrocephalus, Malar flattening, Short stature, Ventriculomegaly, Agenesis of corpu... |
OMIM:109120 |
Ogden Syndrome |
|
Excessive daytime somnolence, Ventriculomegaly, Microretrognathia, Postnatal growth retardation, ... |
ORPHA:276432 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Delayed CNS myelination, Decreased thalamic volume, Secondary microcephaly, Failure to thrive |
OMIM:613668 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Irritability... |
OMIM:275350 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb muscle weakness, Hydrocephalus, Triceps weakness, Paresis of extensor muscles o... |
ORPHA:99947 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hydrocephalus, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum |
ORPHA:1528 |
Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Hydrocephalus |
ORPHA:1672 |
Alobar Holoprosencephaly |
|
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... |
ORPHA:220386 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Micrognathia, Failure to thrive, Growth delay, Thrombocytopenia,... |
OMIM:614857 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Reduced consciousness/confusion, Skin rash, Increased CSF protein ... |
ORPHA:33475 |
Scedosporiosis |
|
Abnormal respiratory system physiology, Endocarditis, Arthralgia/arthritis, Cough, Sinusitis, Sep... |
ORPHA:449280 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Delayed puberty, Enteroviral hepatitis, Short stature, Decreased response to growth hormone stimu... |
OMIM:307200 |
Mucopolysaccharidosis Type 1 |
|
Chronic otitis media, Macrocephaly, Hydrocephalus, Cough, Short stature, Apnea, Sinusitis, Spleno... |
ORPHA:579 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Anencephaly, Micrognathia, Agenesis of corpus callosum |
OMIM:614120 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Abnormal myelination, Hydrocephalus |
ORPHA:352682 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination, Agenesis of corpus callosum |
ORPHA:401820 |
Nijmegen Breakage Syndrome |
|
Glioma, Malar prominence, Intrauterine growth retardation, Short stature, Autoimmune hemolytic an... |
OMIM:251260 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Agenesis of corpus callosum |
ORPHA:401830 |
Biemond Syndrome Type 2 |
|
Obesity, Delayed puberty, Short stature, Hydrocephalus |
ORPHA:141333 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Loss of consciousness, Hypoglycemic coma, Lethargy, Large for gestational age, Drowsiness |
ORPHA:276556 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Tubulointerstitial nephritis, Pancreatitis, Neutropenia, Failure to thrive, Respirato... |
OMIM:251000 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Self-mutilation, Aggressive behavior, Hydrocephalus |
OMIM:616521 |
Hemochromatosis, Type 2A |
|
Azoospermia, Lethargy, Splenomegaly, Arthritis |
OMIM:602390 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:380 |
Tay-Sachs Disease |
|
Hepatosplenomegaly, Abnormal thalamic MRI signal intensity, Aspiration pneumonia, Lower limb musc... |
ORPHA:845 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Loss of consciousness, Hypoglycemic coma, Lethargy, Large for gestational age, Drowsiness |
ORPHA:276575 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Chronic... |
OMIM:617092 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
ORPHA:382 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Hydrocephalus, Progressive macrocephaly, Ventriculomegaly |
OMIM:602501 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central sleep apnea, Small pituitary gland, Hypothalamic luteinizing hormone-releasing hormone de... |
ORPHA:398079 |
Alg2-Cdg |
|
Cerebral hypomyelination, Microcephaly, Lateral ventricle dilatation |
ORPHA:79326 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Decreased specific anti-polysaccharide antibody level, Inflammation of the large in... |
OMIM:614576 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retrognathia, Hydrocephalus, Malar flattening, Mandibular prognathia, Failure to thrive, Microcep... |
OMIM:620157 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:271980 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Primary microcephaly, Short stature, Lateral ventricle dilatation, Gli... |
OMIM:619847 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hydrocephalus, Micrognathia, Ventriculomegaly |
OMIM:618577 |
Cleidocranial Dysplasia |
|
Chronic otitis media, Macrocephaly, Mandibular prognathia, Abnormal dental enamel morphology, Sho... |
ORPHA:1452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617967 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Increased CSF phenylalanine concentration, Lethargy, Irritability |
OMIM:233910 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Severe postnatal growth retardation, Lateral ventricle dilatation, Dil... |
ORPHA:3078 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Occipital encephalocele, Decreased thalamic volume, Proximal muscle weakness, Vent... |
ORPHA:370959 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Endocarditis, Tubulointerstitial nephritis, Skin rash, Respiratory insufficiency, Co... |
ORPHA:183 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Stomatitis, Megaloblastic anemia, Delirium, Hydrocephalus, Pulmo... |
ORPHA:79282 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Skin rash, Anemia, Myositis, Lymphopenia, Arthritis, Failur... |
OMIM:617591 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Muscle weakness, Lethargy, Short stature |
OMIM:618120 |
Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy, Coma |
OMIM:238750 |
Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Macrocephaly, Hydrocephalus, Neck muscle weakness, External ophtha... |
OMIM:310400 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Small for gestational age, Progressive microcephaly, Rhizomelia,... |
OMIM:607143 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Microcephaly, Apneic episodes in infancy |
OMIM:610006 |
Hydranencephaly |
|
Dysgenesis of the thalamus, Primary microcephaly, Thalamic edema, Intrauterine growth retardation... |
ORPHA:2177 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Normocytic anemia, Megaloblastic anemia, Failure to thrive |
OMIM:236270 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Ventriculomegaly, Microcephaly, Delayed CNS myelination, Agenesis of corpus callosum |
OMIM:616362 |
X-Linked Intellectual Disability, Wilson Type |
|
Delayed myelination, Mandibular prognathia, Lateral ventricle dilatation, Microcephaly, Growth delay |
ORPHA:85290 |
Isolated Complex I Deficiency |
|
Poor head control, Respiratory insufficiency, Intrauterine growth retardation, Failure to thrive,... |
ORPHA:2609 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Dyspnea, Autoimmune thrombocytopenia, Autoi... |
ORPHA:1959 |
Igg4-Related Pachymeningitis |
|
Dyspnea, Increased circulating IgG4 level, Increased CSF protein concentration, Lower limb muscle... |
ORPHA:449427 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation |
OMIM:616816 |
Adams-Oliver Syndrome 2 |
|
Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Microcephaly, Micrognathia |
OMIM:614219 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Poor head control, Secondary microcephaly, Irritability, Failure to thrive, Ventric... |
OMIM:620352 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central sleep apnea, Small pituitary gland, Short stature, Hypothalamic luteinizing hormone-relea... |
ORPHA:398069 |
Familial Acute Necrotizing Encephalopathy |
|
Increased CSF protein concentration, Abnormality of thalamus morphology, Gliosis, Abnormal patter... |
ORPHA:88619 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Failure to thrive, Confusion, Lethargy, Coma |
OMIM:238970 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Lateral ventricle dilatation, Self-injurious behavior, Total ophthalmoplegia, Micr... |
ORPHA:208447 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
CNS hypomyelination, Delayed myelination, Neonatal death, Stillbirth, Respiratory failure, Increa... |
OMIM:614922 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Abnormal emotion/affect behavior, Obesity |
ORPHA:238624 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Microcephaly, Failure to thrive |
ORPHA:2394 |
Fusariosis |
|
Peritonitis, Lung abscess, Maculopapular exanthema, Productive cough, Granuloma, Myositis, Neutro... |
ORPHA:228119 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Azoospermia, Short stature, Hydrocephalus |
ORPHA:2183 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Astrocytosis, Abnormal myelination, Bradykinesia, Microcephaly, Splenomegaly |
ORPHA:309854 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Intrauterine growth retardation, Ventr... |
OMIM:225790 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Emotional lability, Macrocephaly, Primary microcephaly, Partial agenesis of the corpus callosum, ... |
ORPHA:300570 |
Distal 7Q11.23 Microduplication Syndrome |
|
Anxiety, Frontal encephalocele, Hydrocephalus |
ORPHA:261102 |
Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Trichinellosis |
|
Reduced consciousness/confusion, Apathy, Trismus, Skin rash, Increased circulating IgE level, Exc... |
ORPHA:863 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Lethargy, Short stature, Megaloblastic anemia |
ORPHA:49827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Microcephaly, Hydrocephalus |
OMIM:613155 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Respiratory insufficiency, Pancreatitis, Macrocytic anemia, Thrombocytopenia,... |
ORPHA:27 |
Hjv Or Hamp-Related Hemochromatosis |
|
Muscle weakness, Lethargy |
ORPHA:79230 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Delirium, Hydrocephalus, Failure to thrive, Thrombocytopenia, Microcephaly,... |
OMIM:277400 |
1Q44 Microdeletion Syndrome |
|
Biparietal narrowing, Hydrocephalus, Short stature, Micrognathia, Ventriculomegaly, Microcephaly,... |
ORPHA:238769 |
Citrullinemia Type Ii |
|
Fluctuations in consciousness, Decreased body mass index, Delirium, Pancreatitis, Drowsiness, Irr... |
ORPHA:247585 |
Glutaric Acidemia I |
|
Macrocephaly, Hydrocephalus, Delayed myelination, Lateral ventricle dilatation, Failure to thrive... |
OMIM:231670 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Lethargy, Respiratory failure |
OMIM:619386 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Delayed CNS myelination, Microcephaly, Partial agenesis of the corp... |
OMIM:619517 |
Nasu-Hakola Disease |
|
Acute leukemia, Hydrocephalus, Irritability, Ventriculomegaly |
ORPHA:2770 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Hydranencephaly, Holoprosencephaly, Intrauterine growth retardation, Microcephaly, Micrognathia, ... |
ORPHA:2570 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Muscle weakness, Lateral ventricle dilatation |
OMIM:615889 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Macrocephaly, Hydrocephalus, Dilated fourth ventricle, Microretrognathia, Dandy-Walker malformation |
OMIM:220220 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Overweight, Hydrocephalus, Short stature, Relative macrocephaly, Ventriculomegaly, Failure to thr... |
ORPHA:500055 |
Polyrrhinia |
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Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Obsolete: Arnold-Chiari Malformation Type Ii |
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Emotional lability, Partial agenesis of the corpus callosum, Hydrocephalus, Myelomeningocele, Men... |
ORPHA:1136 |
Citrullinemia Type I |
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Failure to thrive, Tachypnea, Lethargy, Loss of consciousness, Coma |
ORPHA:247525 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Retrognathia, Hydrocephalus, Ventriculomegaly, Episodic tachypnea, Micrognathia, Dandy-Walker mal... |
ORPHA:163961 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Short s... |
OMIM:611590 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Macrocephaly, Small for gestational age, Hydrocephalus, Disproportionate short-trunk short statur... |
OMIM:613330 |
Thanatophoric Dysplasia Type 2 |
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Encephalocele, Macrocephaly, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Short s... |
ORPHA:93274 |
Lissencephaly 5 |
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Macrocephaly, Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Self-mutilation, Aggressive behavior, Hyperactivity |
OMIM:615516 |
Congenital Hypothyroidism |
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Sinusitis, Anxiety, Anterior hypopituitarism, Short stature |
ORPHA:442 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Failure to thrive in infancy, Lethargy, Pulmonary arterial hypertension |
OMIM:619064 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Infantile Sialic Acid Storage Disease |
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Vacuolated lymphocytes, Splenomegaly, Failure to thrive, Hydrocephalus |
OMIM:269920 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Poor head control, Progressive microcephaly, Hydrocephalus, Respiratory insufficiency due to musc... |
OMIM:615249 |
Cockayne Syndrome Type 3 |
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Progressive microcephaly, Astrocytosis, Keratoconjunctivitis sicca, Abnormal myelination, Enamel ... |
ORPHA:90324 |
Rheumatic Fever |
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Myocarditis, Endocarditis, Respiratory insufficiency, Arthritis, Sinusitis, Recurrent pharyngitis... |
ORPHA:3099 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Neonatal respiratory distress, Respiratory insufficiency, Apnea, Ventriculomegaly, Respiratory fa... |
OMIM:608836 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Secondary microcephaly, Delayed myelination, Lateral ventricle dilatation, Bradykinesia, Delayed ... |
OMIM:617854 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Macrocephaly, Proximal muscle weakness, Lateral ventricle dilatation, Distal muscle weakness, Fac... |
OMIM:256850 |
Bare Lymphocyte Syndrome, Type I |
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Chronic otitis media, Chronic sinusitis, Bronchiectasis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Chronic otitis media, Eczematoid dermatitis, Atypical or prolonged hepatitis, Oligoclonal T cell ... |
ORPHA:83471 |
Isovaleric Acidemia |
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Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Lethargy, Coma |
OMIM:243500 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
Fanconi Anemia, Complementation Group I |
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Colpocephaly, Decreased body weight, Bone marrow hypocellularity, Intrauterine growth retardation... |
OMIM:609053 |
Craniofacial Dyssynostosis With Short Stature |
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Hydrocephalus, Malar flattening, Short stature, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:218350 |
Mucopolysaccharidosis Type 6 |
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Chronic otitis media, Disproportionate short-trunk short stature, Failure to thrive, Sinusitis, R... |
ORPHA:583 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Macrocephaly, Intrauterine growth retardation, Lateral ventricle dilatation, Dilated fourth ventr... |
OMIM:617751 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
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Macrocephaly, Hydrocephalus |
ORPHA:83473 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Head-banging, Macrocephaly, Overweight, Hydrocephalus, Short stature, Lateral ventricle dilatatio... |
OMIM:619575 |
Good Syndrome |
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Dyspnea, Anemia, Cough, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiectasis, A... |
ORPHA:169105 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Tubulointerstitial nephritis, Hydrocephalus, Anxiety, Dandy-Walker malformation, Short stature, R... |
ORPHA:459061 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Poor head control, Increased CSF protein concentration, Respiratory insufficiency, Failure to thr... |
OMIM:252010 |
Yellow Nail Syndrome |
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Pulmonary arterial hypertension, Dyspnea, Cough, Sinusitis, Bronchiectasis, Rhinitis |
ORPHA:662 |
Thanatophoric Dysplasia |
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Macrocephaly, Hydrocephalus, Respiratory insufficiency, Intrauterine growth retardation, Ventricu... |
ORPHA:2655 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Tracheomalacia, Astrocytosis, Increased CSF protein concentration, Hypoventilation, Failure to th... |
OMIM:203700 |
Crigler-Najjar Syndrome |
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Infectious encephalitis, Lethargy, Ophthalmoparesis |
ORPHA:205 |
Classic Galactosemia |
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Delayed puberty, Anxiety, Lethargy, Abnormal erythrocyte enzyme level |
ORPHA:79239 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology, Microcephaly, Hydrocephalus |
ORPHA:398189 |
Granulomatosis With Polyangiitis |
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Chronic otitis media, Keratitis, Granulomatosis, Respiratory insufficiency, Cough, Uveitis, Episc... |
OMIM:608710 |
Typhoid |
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Skin rash, Cough, Infectious encephalitis, Epistaxis, Lethargy, Splenomegaly, Coma |
ORPHA:99745 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Macrocephaly, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Ven... |
OMIM:618291 |
Microsporidiosis |
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Peritonitis, Myocarditis, Pharyngitis, Cachexia, Abnormality of the spleen, Decreased proportion ... |
ORPHA:2552 |
Glutamine Deficiency, Congenital |
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Neonatal respiratory distress, Decreased CSF glutamine concentration, CNS hypomyelination, Latera... |
OMIM:610015 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatosplenomegaly, Poor head control, Leukocytosis, Extramedullary hematopoiesis, Hydrocephalus,... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 1 |
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Macrocephaly, Hydrocephalus, Anemia, Calvarial osteosclerosis, Ophthalmoparesis, Failure to thriv... |
OMIM:259700 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Lethargy, Short stature, Irritability, Failure to thrive |
ORPHA:2089 |
Medulloblastoma |
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Hydrocephalus, Irritability, Total ophthalmoplegia, Lethargy, Progressive macrocephaly |
ORPHA:616 |
Unilateral Hemispheric Polymicrogyria |
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Lateral ventricle dilatation |
ORPHA:101071 |
Benign Samaritan Congenital Myopathy |
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Lethargy, Abnormal respiratory system physiology |
ORPHA:324581 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Macrocephaly, Hydrocephalus, Malar flattening, Mandibular prognathia, Abnormal dental enamel morp... |
ORPHA:2180 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Emotional lability, Short stature, Impaired T cell function, Failure to thrive, Irritability, Let... |
OMIM:201100 |
Acute Disseminated Encephalomyelitis |
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Abnormal thalamic MRI signal intensity, Optic neuritis, Increased CSF protein concentration, Diap... |
ORPHA:83597 |
Idiopathic Congenital Hypothyroidism |
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Elevated circulating thyroid-stimulating hormone concentration, Lethargy |
ORPHA:95717 |
Optic Pathway Glioma |
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Ophthalmoplegia, Growth delay, Fatigable weakness, Hydrocephalus |
ORPHA:2086 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Respiratory insufficiency, Sudden episodic apnea, Irritability, Muscle weakness, Microcephaly, Le... |
ORPHA:159 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Hydrocephalus |
OMIM:258320 |
Hydrocephalus, Congenital, X-Linked |
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Macrocephaly, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus |
OMIM:307000 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
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Colpocephaly, Retrognathia, Hydrocephalus, Micrognathia, Ventriculomegaly, Growth delay, Agenesis... |
OMIM:620156 |
Emanuel Syndrome |
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Hydrocephalus, Intrauterine growth retardation, Chronic oral candidiasis, Failure to thrive, Vent... |
OMIM:609029 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Hydrocephalus, CNS demyelination, Short stature, Microcephaly, Growth delay, Decreased body weigh... |
OMIM:614886 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Mitochondrial Trifunctional Protein Deficiency |
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Respiratory insufficiency, Lower limb muscle weakness, Failure to thrive in infancy, Progressive ... |
ORPHA:746 |
Whim Syndrome |
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Severe periodontitis, Pharyngitis, Lymphadenitis, Lymphopenia, Parotitis, Sinusitis, Recurrent pn... |
ORPHA:51636 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Fusion of the left and right thalami, Agenesis of corpus callosum, Hydrocephalus |
OMIM:617542 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Poor head control, Cerebral hypomyelination, Abnormal myelination, Short stature, Failure to thri... |
ORPHA:280210 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Small for gestational age, Poor head control, Primary microcephaly, Secondary microcephaly, Abnor... |
ORPHA:289266 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Mandibular prognathia, Intrauterine... |
ORPHA:1908 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Zygomycosis |
|
Peritonitis, Myocarditis, Colitis, Gastritis, Pneumothorax, Splenic abscess, Epistaxis, Endocardi... |
ORPHA:73263 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Failure to thrive, Sleep apnea, Microcephaly, Pleural effusion, Ast... |
OMIM:618606 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Inspiratory stridor, Agenesis... |
OMIM:207950 |
Progressive Non-Fluent Aphasia |
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Anxiety, Astrocytosis |
ORPHA:100070 |
Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Chronic pulmonary obstruction, Hemolytic anemia, Epistaxis, Dyspnea, Abnorm... |
ORPHA:906 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Malar flattening, Micrognathia, Laryngomalacia, Obesity |
ORPHA:171839 |
Galactosemia |
|
Lethargy, Abnormal erythrocyte enzyme level, Failure to thrive |
ORPHA:352 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Monosomy 18Q |
|
Biparietal narrowing, Slender build, Hydrocephalus, Mandibular prognathia, Decreased circulating ... |
ORPHA:1600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Muscle weakness, Necrotizing enterocolitis, Microcephaly, Tachypnea, Lethargy, Respiratory arrest |
OMIM:201475 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Leukocytosis, Apathy, Leukopenia, Anemia, Apnea, Acute pancreatitis, Microcephaly, Hyp... |
ORPHA:20 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Irritability, Lethargy, Failure to thrive, Coma |
OMIM:237300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrocephaly, Hydrocephalus |
OMIM:300886 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Tenorio Syndrome |
|
Emotional lability, Macrocephaly, Hydrocephalus, Recurrent aphthous stomatitis, Anxiety, Keratoco... |
OMIM:616260 |
Scrub Typhus |
|
Myocarditis, Reduced consciousness/confusion, Dyspnea, Skin rash, Restrictive ventilatory defect,... |
ORPHA:83317 |
Griscelli Syndrome |
|
Encephalocele, Leukopenia, Hydrocephalus, Abnormality of neutrophils, Bone marrow hypocellularity... |
ORPHA:381 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Microcephaly, Lateral ventricle dilatation |
OMIM:618890 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Colpocephaly, Small for gestational age, Intrauterine growth retardation, Fai... |
OMIM:614866 |
Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Productive cough, Chronic rhinitis,... |
OMIM:615482 |
Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Microcephaly, Lateral ventricle dilatation |
ORPHA:300573 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Chronic rhinitis, Short stature, Decreased nasal nitric oxide, Bro... |
OMIM:612649 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Skin rash, Autoimmune thrombocytopenia, Granuloma, Disprop... |
ORPHA:1855 |
Pettigrew Syndrome |
|
Hydrocephalus, Aqueductal stenosis, Mandibular prognathia, Calvarial osteosclerosis, Ventriculome... |
OMIM:304340 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Stomatitis, Megaloblastic anemia, Skin rash, Anemia, Short stature, Fa... |
OMIM:277380 |
Coach Syndrome 2 |
|
Apneic episodes in infancy, Agenesis of corpus callosum, Hydrocephalus |
OMIM:619111 |
Microscopic Polyangiitis |
|
Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Epistaxis, Inc... |
ORPHA:727 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Weight loss, Failure to thrive |
OMIM:143880 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Malar flattening, Intrauterine growth retardation, Failure to thrive, Microcephaly... |
OMIM:612940 |
Bresek Syndrome |
|
Hydrocephalus, Intrauterine growth retardation, Neonatal death, Microcephaly, Growth delay |
ORPHA:85284 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Apathy, Arthritis, Muscle weakness, Lethargy, Splenomegaly, Weight loss |
ORPHA:465508 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum |
OMIM:619955 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Aggressive behavior, Hyperactivity |
OMIM:612716 |
Desmosterolosis |
|
Macrocephaly, Retrognathia, Severe short stature, Hydrocephalus, Intrauterine growth retardation,... |
ORPHA:35107 |
Edinburgh Malformation Sy |