Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Depression, Mania |
OMIM:125480 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity |
OMIM:300830 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... |
OMIM:618157 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:618830 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... |
OMIM:173100 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:300425 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... |
OMIM:221750 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimulation test, Acromicria, Short stature, Reduced circula... |
OMIM:612781 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Autism |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:607373 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... |
OMIM:618160 |
Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Pituitary dw... |
OMIM:262710 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Memory impairm... |
ORPHA:251623 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... |
OMIM:300123 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71526 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism, Pituitary dwarfism |
OMIM:312000 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... |
OMIM:612079 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology |
ORPHA:1653 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Truncal ataxia... |
OMIM:608636 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation |
OMIM:617171 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
Mehmo Syndrome |
|
Male hypogonadism, Decreased response to growth hormone stimulation test, Difficulty walking, Ina... |
OMIM:300148 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... |
ORPHA:3363 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... |
ORPHA:100083 |
Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism... |
OMIM:616784 |
Pick Disease Of Brain |
|
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion... |
OMIM:172700 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
Endocardial Fibroelastosis |
|
Cognitive impairment, Sandal gap, Anterior hypopituitarism, Cryptorchidism |
ORPHA:2022 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... |
OMIM:614963 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature |
ORPHA:1261 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism |
OMIM:612702 |
Cog2-Cdg |
|
Small pituitary gland, Psychomotor deterioration |
ORPHA:435934 |
Rhyns Syndrome |
|
Hypoplastic ilia, Hypopituitarism, Small epiphyses, Abnormal acetabulum morphology, Abnormal long... |
ORPHA:140976 |
Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio... |
OMIM:182230 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:300495 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism, Ataxia |
ORPHA:480 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... |
ORPHA:275864 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Genu valgum, Delayed puberty, Abdominal obesity, Short stature, Growth delay, Anterior hypopituit... |
ORPHA:631 |
Temple Syndrome |
|
Precocious puberty, Small hand, Decreased response to growth hormone stimulation test, Postnatal ... |
ORPHA:254516 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia |
ORPHA:1264 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Short attention span, Self-mutilation, Truncal ataxia, Unsteady gait, Motor ste... |
OMIM:614063 |
4H Leukodystrophy |
|
Mental deterioration, Decreased response to growth hormone stimulation test, Abnormality of thyro... |
ORPHA:289494 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... |
OMIM:613038 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
Oliver-Mcfarlane Syndrome |
|
Severe short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypo... |
OMIM:275400 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Galloway-Mowat Syndrome 6 |
|
Growth delay, Decreased response to growth hormone stimulation test, Intrauterine growth retardat... |
OMIM:618347 |
Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... |
ORPHA:67045 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Short attention span, Central diabetes insipidus, Dysphagia, Anterior hypopit... |
ORPHA:280195 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Aggressive behavior, Hy... |
OMIM:615286 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Triple A Syndrome |
|
Short stature, Adrenal insufficiency, Anterior hypopituitarism, Ataxia |
ORPHA:869 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
Weiss-Kruszka Syndrome |
|
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Proximal p... |
ORPHA:502430 |
Ziegler-Huang Syndrome |
|
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... |
OMIM:620501 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Cognitive impairment, Brachydactyly, Short stature, Ante... |
ORPHA:2863 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... |
ORPHA:91354 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimulation test, Short stature, Waddling gait |
OMIM:616224 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio... |
ORPHA:168782 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy |
OMIM:612069 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Sel... |
ORPHA:457240 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... |
ORPHA:95619 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia |
OMIM:304800 |
Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, G... |
ORPHA:98764 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, Hy... |
OMIM:300942 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:620152 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... |
OMIM:620651 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Short distal phalanx of finger, Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism |
ORPHA:181 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
DECIPHER:39 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... |
ORPHA:240094 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
Rhyns Syndrome |
|
Radial bowing, Decreased response to growth hormone stimulation test, Short stature, Brachydactyl... |
OMIM:602152 |
Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
Boomerang Dysplasia |
|
Finger syndactyly, Decreased response to growth hormone stimulation test, Abnormal tibia morpholo... |
ORPHA:1263 |
Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Growth delay, Increased circulating prolactin concentration, Decreased circulating T4... |
ORPHA:99832 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I... |
ORPHA:2410 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226650 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test, Failure to thrive, Severe short stature |
OMIM:245590 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Williams-Beuren Region Duplication Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Attenti... |
OMIM:609757 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... |
OMIM:608747 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration |
OMIM:615555 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... |
ORPHA:226307 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypopituitarism, Dec... |
ORPHA:90695 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... |
ORPHA:3008 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Prominent fingertip pads, Failure to thrive, Bilateral cryptorchidism, Decrease... |
ORPHA:485405 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, ... |
OMIM:600795 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Decreased response to growth hormone stimulation test, Postnatal growth ret... |
OMIM:614732 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:619150 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal toe morphology, Aplasia/Hypoplasi... |
OMIM:216100 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Arachnodactyly, Hypothyroidism, Short stature |
OMIM:619013 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... |
ORPHA:1501 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hyperglycinemia, Partial atrioventricular canal defect, Impulsivity, Hyperactivity... |
OMIM:620423 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... |
ORPHA:163976 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... |
OMIM:619476 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
Pallister-Hall-Like Syndrome |
|
Postaxial foot polydactyly, Toe syndactyly, Anterior hypopituitarism, Hypothalamic hamartoma, Pos... |
OMIM:241800 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Depression, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:601853 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556037 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:608049 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity |
OMIM:619470 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
Giant Axonal Neuropathy |
|
Falls, Difficulty walking, Genu valgum, Distal sensory impairment, Unsteady gait, Abnormal pituit... |
ORPHA:643 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... |
ORPHA:91351 |
Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Anorexia |
ORPHA:178029 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Panhypopituitarism, Decreased testicular size, Intrauterine growth retardation,... |
OMIM:300953 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy |
OMIM:617830 |
Spinocerebellar Ataxia 21 |
|
Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme... |
OMIM:607454 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Decreased respo... |
OMIM:610978 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Abnormal epiphysis morp... |
ORPHA:90674 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia |
ORPHA:627 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:98793 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79405 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... |
ORPHA:95494 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:98754 |
Myopathy, Mitochondrial, And Ataxia |
|
Depression, Increased circulating prolactin concentration, Difficulty walking, Inability to walk,... |
OMIM:617675 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556030 |
Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:94089 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:177904 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:177901 |
Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Paresthesia, Adrenocorticotropic h... |
ORPHA:251937 |
Immunodeficiency 54 |
|
Failure to thrive, Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retar... |
OMIM:609981 |
Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Small hand, Decreased response to growth hormone ... |
OMIM:300845 |
Orofaciodigital Syndrome Iii |
|
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules |
OMIM:258850 |
Manganese Poisoning |
|
Memory impairment, Confusion, Inappropriate laughter, Akinesia, Aggressive behavior, Gait disturb... |
ORPHA:306682 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Motor stereotypy, Irritability |
OMIM:617393 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Hypohidrosis, Growth delay, Failure to thrive |
ORPHA:98813 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... |
OMIM:606407 |
Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
15Q24 Microdeletion Syndrome |
|
Small hand, Clinodactyly, Failure to thrive, Decreased response to growth hormone stimulation tes... |
ORPHA:94065 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Genu valgum, Short stature, Hip dislocation |
ORPHA:436174 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy, Inability to walk |
OMIM:617820 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Intrauterine growth ret... |
ORPHA:363528 |
Pseudohypoparathyroidism Type 1C |
|
Polyphagia, Short metacarpal, Broad distal phalanx of the thumb, Depression, Short 3rd metacarpal... |
ORPHA:79444 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:177735 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, Delayed puberty, Failure to thrive, Growth delay |
OMIM:600462 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Memory impairment, Hypopituitarism, Addictive alcohol use, Hypothyroidism, Cognitive impairment, ... |
ORPHA:90065 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Intrauterine gr... |
OMIM:180860 |
Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:609425 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism |
OMIM:264350 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Hip dysplasia, ... |
OMIM:601427 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... |
OMIM:615926 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... |
ORPHA:174 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Avascular... |
ORPHA:93308 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... |
OMIM:617412 |
Xq21 Microdeletion Syndrome |
|
Dysdiadochokinesis, Decreased response to growth hormone stimulation test, Postnatal growth retar... |
ORPHA:1435 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Ataxia |
ORPHA:324737 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
OMIM:102200 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Failure to thrive, Increased circulating prolactin concentration, Irritability, Hyperhidrosis, Sh... |
ORPHA:35708 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
Snakebite Envenomation |
|
Hypopituitarism, Neuromuscular dysphagia, Pseudobulbar paralysis |
ORPHA:449285 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Sel... |
OMIM:618922 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Abnormal de... |
ORPHA:69087 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb |
OMIM:618624 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... |
ORPHA:1946 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
Eem Syndrome |
|
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... |
ORPHA:1897 |
Acrootoocular Syndrome |
|
Small for gestational age, Short toe, Sandal gap, Short finger, Decreased response to growth horm... |
ORPHA:2980 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Decreased response to growth hormone stimulation test, Intrauterine growth retardat... |
OMIM:617784 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar ataxia |
ORPHA:98773 |
Pseudohypoparathyroidism Type 1A |
|
Polyphagia, Short metacarpal, Choreoathetosis, Broad distal phalanx of the thumb, Depression, Sho... |
ORPHA:79443 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Pi... |
ORPHA:199299 |
Kallmann Syndrome |
|
Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased testicular s... |
ORPHA:478 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume... |
ORPHA:1787 |
Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... |
ORPHA:3077 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... |
OMIM:101800 |
Zimmermann-Laband Syndrome |
|
Bifid uvula, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, High palate... |
ORPHA:3473 |
Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
Dominant Beta-Thalassemia |
|
Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Genu valgum, ... |
ORPHA:231226 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... |
ORPHA:449291 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogonadism, Absence of puber... |
ORPHA:398069 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
OMIM:614736 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona... |
ORPHA:398079 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... |
ORPHA:750 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,... |
OMIM:615516 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Prolactinoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... |
ORPHA:2232 |
Sheehan Syndrome |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Genu valgum, Ch... |
OMIM:216550 |
Foxg1 Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Co... |
ORPHA:561854 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Attention deficit hyperactivity disorder, Short stature, Cryptorchidism |
ORPHA:93932 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... |
OMIM:617695 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag... |
ORPHA:293987 |
Meningioma |
|
Increased circulating prolactin concentration, Difficulty walking, Emotional lability, Neoplasm o... |
ORPHA:2495 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Severe short stature, Clinodactyly, Bilateral cryptorchidism, Decreased response to growth hormon... |
OMIM:618336 |
Trichorhinophalangeal Syndrome Type 2 |
|
Abnormality of the dentition, Long philtrum, Abnormal palate morphology, Thin upper lip vermilion... |
ORPHA:502 |
Wiedemann-Steiner Syndrome |
|
Rhizomelia, Clinodactyly, Failure to thrive, Decreased response to growth hormone stimulation tes... |
ORPHA:319182 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Depression, Somatic sensory dysfunction, Increased circulating prolactin concentration, Difficult... |
ORPHA:502423 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponatremia, Restl... |
ORPHA:100924 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed puberty... |
ORPHA:280679 |
Perry Syndrome |
|
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Disinhibition, Frontotemporal dem... |
OMIM:168605 |
Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... |
ORPHA:1452 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dementia, Aggressive behavior, Akinesia, Mental deterioration |
OMIM:300894 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:199296 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth |
OMIM:190351 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ... |
OMIM:618728 |
Prader-Willi Syndrome |
|
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidis... |
OMIM:176270 |
Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
Beta-Thalassemia Major |
|
Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Genu valgum, ... |
ORPHA:231214 |
Hydranencephaly |
|
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ... |
ORPHA:2177 |
Landau-Kleffner Syndrome |
|
Memory impairment, Short attention span, Gait ataxia, Aggressive behavior, Attention deficit hype... |
ORPHA:98818 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar |
OMIM:302350 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... |
ORPHA:1827 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... |
OMIM:301029 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Decreased response to growth hormone stimulation test, Postnatal growth retardation, ... |
OMIM:241410 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Mental deterioration |
ORPHA:2382 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... |
OMIM:620242 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615842 |
Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615841 |
Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Long philtrum, Micrognathia, Long upper lip, High palate, Supernume... |
ORPHA:77258 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:618218 |
Deeah Syndrome |
|
Impaired pain sensation, Decreased response to growth hormone stimulation test, Panhypopituitaris... |
OMIM:619004 |
Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Short stature, Diabetes insipid... |
ORPHA:3157 |
Trichotillomania |
|
Compulsive behaviors, Hair-pulling |
OMIM:613229 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation... |
OMIM:609053 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Social and occupa... |
ORPHA:240071 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... |
ORPHA:66624 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia |
OMIM:619718 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... |
ORPHA:199302 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ... |
OMIM:618917 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Delayed epiphyseal ossification, Congenital hip dislocation, Growth delay, Fl... |
OMIM:616007 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Supernumerary tooth, Persistence of primary teeth |
OMIM:619752 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... |
OMIM:301077 |
Xq28 (MECP2) duplication |
|
Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy |
DECIPHER:45 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Short stature, Anterior hypopituitarism |
OMIM:147250 |
Nelson Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... |
ORPHA:199244 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Motor deteri... |
ORPHA:79264 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Premature adrenarche, Clinodactyly, Failure to thrive, Decreased response to ... |
ORPHA:96182 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Difficulty walking, Abnormal tibia morphology, Ovarian cyst... |
ORPHA:249 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
Corticobasal Syndrome |
|
Dementia, Akinesia, Memory impairment, Gait disturbance |
ORPHA:454887 |
Prader-Willi Syndrome Due To Translocation |
|
Small hand, Clinodactyly, Overlapping toe, Anterior pituitary hypoplasia, Short foot, Motor stere... |
ORPHA:177907 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Cryptorchidism, Hip dislocation, Syndactyly, Precocio... |
OMIM:146510 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
Alobar Holoprosencephaly |
|
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth... |
ORPHA:220386 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Toe syndactyly, Decreased response to growth hormone stimulation test, Long hallux, Bilateral cam... |
OMIM:619234 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Adrenal h... |
OMIM:220210 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Inability to walk, Recurrent hand flapping, Emotional lability, Gait ataxia, Short attention span... |
OMIM:619580 |
Frontorhiny |
|
Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Brachydactyly, Diabetes insipidus |
ORPHA:391474 |
Orofacial Cleft 15 |
|
Bilateral cleft lip, Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate |
OMIM:616788 |
Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
Orofaciodigital Syndrome Ii |
|
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... |
OMIM:252100 |
Shwachman-Diamond Syndrome |
|
Metaphyseal irregularity, Growth delay, Pancreatic hypoplasia, Proximal femoral epiphysiolysis, F... |
ORPHA:811 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Memory impairment, Akinesia, Gait ataxia, Ataxia, Dementia, Dysphagia, Dysdiadoch... |
ORPHA:247234 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... |
ORPHA:352490 |
Isolated Biliary Atresia |
|
Small for gestational age, Failure to thrive, Hypopituitarism, Atretic gallbladder, Severe failur... |
ORPHA:30391 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability |
ORPHA:391307 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Preaxial hand polydactyly, Decreased response to growth hormone stimulation test, Bilateral crypt... |
ORPHA:96179 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth |
OMIM:604757 |
Juvenile Huntington Disease |
|
Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Dementia, Progressive cerebellar ataxia |
ORPHA:248111 |
Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Difficulty walking, Genu valgum, Disproportionate short-trunk short stature... |
ORPHA:239 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Short stature, Hyperhidrosis |
OMIM:615280 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:620292 |
X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... |
ORPHA:43 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... |
OMIM:618342 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent... |
ORPHA:364577 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia |
ORPHA:1930 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A... |
ORPHA:168491 |
Kufor-Rakeb Syndrome |
|
Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Dementia, Dysphagia |
OMIM:606693 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia |
ORPHA:391411 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia |
OMIM:226700 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Toe syndactyly, Decreased response to growth hormone stimulation test, Failure ... |
OMIM:601808 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect |
OMIM:608688 |
Laron Syndrome |
|
Severe short stature, Delayed menarche, Decreased serum insulin-like growth factor 1, Short long ... |
OMIM:262500 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hepatos... |
OMIM:603553 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting the 4th finger... |
ORPHA:672 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy, Agitation |
ORPHA:927 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... |
OMIM:610042 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment |
ORPHA:98784 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... |
OMIM:614104 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation |
OMIM:617435 |
Legionnaires Disease |
|
Splenomegaly, Hyponatremia, Anorexia, Myocarditis, Endocarditis, Pericarditis |
ORPHA:549 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Clinodactyly, Decreased response to growth hormone stimulation test, Intrauterine gro... |
OMIM:614114 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te... |
OMIM:615866 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocarditis, Abnormal ... |
ORPHA:31824 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hyponatremia, Decreased circulating cortisol level, Anorexia, Hyperk... |
ORPHA:361 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth |
ORPHA:90024 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Thicke... |
OMIM:620558 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia |
ORPHA:563612 |
Whipple Disease |
|
Polydipsia, Anorexia, Splenomegaly, Hyponatremia, Myocarditis, Hepatomegaly, Pericarditis |
ORPHA:3452 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Mental deterioration, Insulin-resistant diabetes mellitus, Decreased r... |
ORPHA:3464 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Somatomammotropinoma |
|
Macrodactyly, Depression, Pituitary adenoma, Increased circulating prolactin concentration, Pitui... |
ORPHA:314769 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... |
OMIM:615577 |
Microform Holoprosencephaly |
|
Panhypopituitarism, Intrauterine growth retardation, Hypothyroidism, Maternal diabetes, Short sta... |
ORPHA:280200 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Splenomegaly, Anorexia, Elevated circulating C-reactive protein concentration, H... |
OMIM:619381 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... |
OMIM:618825 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Disproportionate short-limb short stature, Metaphyseal spurs, Irregular epiphyses, Small epiphyse... |
OMIM:608728 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... |
ORPHA:228402 |
Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... |
OMIM:275000 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Failure to thrive, Decreased response to growth hormone stimulation te... |
OMIM:603467 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... |
OMIM:618183 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Pycnodysostosis |
|
Small hand, Rhizomelia, Disproportionate short-limb short stature, Short finger, Decreased respon... |
ORPHA:763 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:613090 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro... |
ORPHA:293978 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,... |
ORPHA:1667 |
Spondyloenchondrodysplasia |
|
Hypoplastic ilia, Short distal phalanx of finger, Decreased response to growth hormone stimulatio... |
ORPHA:1855 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor 1 |
ORPHA:79323 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Neonatal short-limb short stature, Disproportionate short-limb short s... |
OMIM:222600 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho... |
ORPHA:85327 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hypothyr... |
OMIM:600430 |
Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Genu valgum, Cryptorchidism, Polyphagia, Dysphagia, Motor stereotypy, Prominent finge... |
OMIM:615873 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl... |
OMIM:177170 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Disproportionate short-limb short stature |
OMIM:619479 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... |
ORPHA:90791 |
Progressive Supranuclear Palsy |
|
Memory impairment, Falls, Cognitive impairment, Dementia, Unsteady gait, Dysphagia, Impulsivity, ... |
ORPHA:683 |
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
Elsahy-Waters Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... |
OMIM:211380 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:617600 |
Infant Botulism |
|
Hyponatremia, Dysphagia, Anorexia |
ORPHA:178478 |
Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Shuffling gait, Akinesia, Agitation, Dementia, Dysphagia, Impulsivity |
ORPHA:411602 |
Poems Syndrome |
|
Hyperesthesia, Increased circulating prolactin concentration, Hypogonadism, Metaphyseal sclerosis... |
ORPHA:2905 |
Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Decreased response to growth hormone stimulation test, Inability to walk, Central a... |
ORPHA:488632 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Motor stereotypy, Waddling gait |
ORPHA:280763 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Increased circulating p... |
OMIM:131100 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate |
ORPHA:2804 |
Eec Syndrome |
|
Toe syndactyly, Xerostomia, Finger syndactyly, Ectrodactyly, Decreased response to growth hormone... |
ORPHA:1896 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Thin vermilion border, Supernumerary tooth, Malar flattening, Thick vermilion border |
ORPHA:86818 |
Monosomy 18Q |
|
Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ... |
ORPHA:1600 |
Orofaciodigital Syndrome I |
|
Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o... |
OMIM:311200 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Short 5th toe, Cryptorchidism, Ataxia, Dysphagia, Posterior pituitary hypoplasi... |
ORPHA:268261 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M... |
OMIM:234100 |
Rett Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Increased serum leptin, Stereotypical hand wringi... |
ORPHA:778 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Acromegaly |
|
Macrodactyly, Depression, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma... |
ORPHA:963 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Small for gestational age, Sandal gap, Failure to thrive, Decreased respons... |
OMIM:616835 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Decreased response to growth hormone stimulation test, Postnatal growth ret... |
OMIM:213980 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... |
ORPHA:313892 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Mental deterioration, Self-mutilation, Stereotypica... |
ORPHA:163681 |
Acromicric Dysplasia |
|
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, ... |
OMIM:102370 |
Arthrogryposis, Distal, Type 12 |
|
High palate, Dental crowding, Agenesis of maxillary incisor |
OMIM:620545 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Cryptor... |
OMIM:613457 |
Ppoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97278 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Th... |
ORPHA:64744 |
Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy |
ORPHA:85278 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hypogonadism, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy |
ORPHA:3306 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Contracture of the proximal interphalangea... |
OMIM:618223 |
Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Motor stereotypy, Choreoathetosis, Ataxia |
OMIM:619317 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth |
OMIM:146300 |
Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
Adrenomyeloneuropathy |
|
Memory impairment, Adrenal insufficiency, Primary adrenal insufficiency, Distal sensory impairmen... |
ORPHA:139399 |
Cleidocranial Dysplasia 1 |
|
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... |
OMIM:119600 |
Smith-Magenis Syndrome |
|
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hyperactivity,... |
OMIM:182290 |
48,Xxyy Syndrome |
|
Depression, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Ataxia, Motor st... |
ORPHA:10 |
Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamarto... |
OMIM:206900 |
Grfoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97261 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Dementia, Mental deterioration, Akinesia |
OMIM:616840 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:616393 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Anorexia, Hyperk... |
ORPHA:95409 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:447997 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy, Ataxia |
OMIM:619725 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
Neuroblastoma |
|
Elevated circulating catecholamine level, Antalgic gait, Irritability, Weight loss, Ataxia |
ORPHA:635 |
Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
Chand Syndrome |
|
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... |
ORPHA:1401 |
Aceruloplasminemia |
|
Memory impairment, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Ataxia, Diabetes mel... |
ORPHA:48818 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Intrauterine growth retardation, Abnormality of the anterior pituitary, Postaxial hand polydactyl... |
ORPHA:75389 |
Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... |
ORPHA:2909 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Anhidrosis |
ORPHA:441 |
Holoprosencephaly |
|
Failure to thrive in infancy, Panhypopituitarism, Chorea, Cryptorchidism, Hand polydactyly, Cogni... |
ORPHA:2162 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia |
OMIM:617913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... |
OMIM:300986 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Severe short stature, Metaphyseal cupping, Clubbing of fingers, Hip contracture, Bowing of the lo... |
OMIM:156400 |
Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depression, Hostility, Inability to walk, Bruxism, Repetitive compulsive behavior, Dysphagia, Ata... |
OMIM:300260 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Irritability, Hypothyroidism, Hyperactivity, Pica, Motor stereotypy |
OMIM:617796 |
Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
Autosomal Recessive Robinow Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi... |
ORPHA:1507 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... |
OMIM:619121 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia |
ORPHA:530983 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia |
OMIM:610883 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr... |
OMIM:268400 |
Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617808 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Wide mouth, Retrognathia, Cleft palate |
ORPHA:314621 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy |
OMIM:300486 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Chorea, Cog... |
ORPHA:309246 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Mental deterioration, Male hypogonadism, Memory impairment, Difficulty walking, Confusion, Inabil... |
ORPHA:139396 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Mental deterioration, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturb... |
OMIM:234200 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Motor stereotypy, Ataxia |
OMIM:619092 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar... |
ORPHA:2108 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
Gabriele-De Vries Syndrome |
|
Sandal gap, Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test, Bre... |
ORPHA:506358 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Disproportionate short stature, Small epiphyses, Genu valgum, Obesity, Hip contracture, Short sta... |
OMIM:618363 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Motor stereotypy, Precocious puberty |
OMIM:619877 |
14Q22Q23 Microdeletion Syndrome |
|
Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Short stature, Diabetes insipi... |
ORPHA:264200 |
Glucagonoma |
|
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... |
ORPHA:97280 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Abnorma... |
ORPHA:2136 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Clinodactyly, Pancreatic hypoplasia, Tibial torsion, Decreased response... |
OMIM:602782 |
Necrotizing Enterocolitis |
|
Hyponatremia, Abnormal heart morphology |
ORPHA:391673 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth |
OMIM:613312 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Small for gestational age, Prominent fingertip pads, Decreased response to gr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Small for gestational age, Prominent fingertip pads, Decreased response to gr... |
ORPHA:363958 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Odontoma, Eruption failure, Supernumerary tooth |
OMIM:175100 |
Choreoacanthocytosis |
|
Self-injurious behavior, Phonic tics, Mental deterioration, Depression, Head-banging, Falls, Brux... |
ORPHA:2388 |
Alg12-Cdg |
|
Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe... |
ORPHA:79324 |
Steinert Myotonic Dystrophy |
|
Mental deterioration, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Em... |
ORPHA:273 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Patent foramen ov... |
OMIM:610505 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:90790 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly, Dysphagia |
OMIM:619751 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Hypodontia, Conical tooth, Carious teeth, Microdontia |
OMIM:620192 |
Pearson Syndrome |
|
Growth delay, Decreased response to growth hormone stimulation test, Exocrine pancreatic insuffic... |
ORPHA:699 |
Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait |
OMIM:618205 |
Autosomal Dominant Robinow Syndrome |
|
High, narrow palate, Downturned corners of mouth, Long philtrum, Retrognathia, Open bite, Microgn... |
ORPHA:3107 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
Hijazi-Reis Syndrome |
|
Gait disturbance, Motor stereotypy |
OMIM:301094 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... |
ORPHA:289548 |
Charge Syndrome |
|
Bifid femur, Abnormal tibia morphology, Postnatal growth retardation, Intrauterine growth retarda... |
ORPHA:138 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
Chime Syndrome |
|
Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hypodontia, Thick vermilio... |
ORPHA:3474 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Prostatitis, Delayed puberty, Short stature |
OMIM:307200 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv... |
ORPHA:168558 |
Cri-Du-Chat Syndrome |
|
Difficulty walking, Oppositional defiant disorder, Short attention span, Self-mutilation, Overfri... |
OMIM:123450 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Postnata... |
OMIM:616263 |
Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
Odontochondrodysplasia 1 |
|
Metaphyseal cupping, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges... |
OMIM:184260 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Motor stereotypy |
OMIM:613443 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Disproportionate short stature, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of th... |
OMIM:609616 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd... |
OMIM:603671 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, St... |
OMIM:300912 |
Addison Disease |
|
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Anorexia, Hyperk... |
ORPHA:85138 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Motor stereotypy |
ORPHA:411986 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone |
OMIM:615633 |
22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Aplasia/Hypopla... |
ORPHA:1727 |
Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration, Myocarditis, Anorexia |
ORPHA:810 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia... |
ORPHA:464306 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... |
ORPHA:247585 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Wide distal femoral metaphysis, Postnatal g... |
OMIM:613320 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618354 |
Alazami Syndrome |
|
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing |
ORPHA:319671 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Dental malocclusion, Pursed lips, Long philtrum, Micrognathia, Narrow mouth... |
ORPHA:800 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... |
OMIM:619293 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Irregular epiphyses of the metacarpals, Short stature, Brachydactyly, Sho... |
OMIM:614078 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hepatosplenomegaly, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steato... |
ORPHA:275761 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Coffin-Siris Syndrome 7 |
|
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity |
OMIM:618027 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Difficulty walking, Gait ataxia, Broad-based gait, Motor stereotypy |
OMIM:617807 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-... |
ORPHA:457395 |
Transketolase Deficiency |
|
Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Comp... |
ORPHA:488618 |
Holoprosencephaly 9 |
|
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ... |
OMIM:610829 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Short stature |
OMIM:617260 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:151050 |
Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Hypothyroidism, Gait disturbance, Delayed puberty, Nephroge... |
ORPHA:213 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder... |
OMIM:619312 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Bruxism, Motor stereotypy, Inability to walk |
OMIM:618004 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy |
OMIM:616351 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo... |
OMIM:219090 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Toe clinodactyly, Severe short stature, Broad thumb, Monkey wrench femoral ... |
OMIM:615777 |
Supranuclear Palsy, Progressive, 2 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Dysphagia |
OMIM:609454 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... |
OMIM:219800 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Short 4th metacarpal, Short long bone, S... |
OMIM:118651 |
Postencephalitic Parkinsonism |
|
Akinesia, Dysphagia |
ORPHA:97349 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Motor stereotypy |
OMIM:618067 |
Gardner Syndrome |
|
Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma |
ORPHA:79665 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Pseudobulbar paralysis |
ORPHA:79276 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... |
OMIM:617061 |
Rett Syndrome, Congenital Variant |
|
Bruxism, Irritability, Tongue thrusting, Athetosis, Motor stereotypy |
OMIM:613454 |
Smith-Lemli-Opitz Syndrome |
|
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... |
ORPHA:818 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Low frustration tol... |
OMIM:619503 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hyponatremia, Hyp... |
ORPHA:167 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Akinesia, Choreoathetosis |
OMIM:618249 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity |
OMIM:617751 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnorm... |
ORPHA:93316 |
Microphthalmia, Syndromic 6 |
|
Toe syndactyly, Finger syndactyly, Failure to thrive, Thumb contracture, Anterior hypopituitarism... |
OMIM:607932 |
Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... |
ORPHA:89938 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... |
ORPHA:3455 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Matern... |
ORPHA:93346 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Memory impairment, Diminished ability to concentrate, Attention deficit hyperactivity disorder, A... |
OMIM:615656 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity |
OMIM:618914 |
Japanese Encephalitis |
|
Hyponatremia, Anorexia |
ORPHA:79139 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Disproportionate short-limb short... |
OMIM:250420 |
Orthostatic Hypotension 1 |
|
Brachydactyly, Reduced circulating prolactin concentration |
OMIM:223360 |
Hypochondroplasia |
|
Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Brachydactyly, Short ... |
OMIM:146000 |
Ritscher-Schinzel Syndrome 4 |
|
Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity |
OMIM:619435 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ... |
ORPHA:163654 |
Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention deficit hyperac... |
ORPHA:534 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Type II diabetes mellitus, Arachnodact... |
OMIM:613406 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Precocious puberty, Attention deficit hyperactivity disorder, Gait distu... |
ORPHA:819 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... |
OMIM:601559 |
Gaucher Disease, Perinatal Lethal |
|
Progressive neurologic deterioration, Akinesia, Dysphagia |
OMIM:608013 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:238750 |
Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... |
OMIM:609152 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Hypothyroidism |
OMIM:619147 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Cryptorchidism, Hypoplasia of t... |
ORPHA:2256 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat... |
OMIM:268305 |
Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Primary hypercortisolism, Adrenocorticotropic hormone excess, Anorexia... |
ORPHA:100079 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck, Rhizomelia,... |
OMIM:611209 |
Peters Plus Syndrome |
|
Rhizomelia, Toe syndactyly, Disproportionate short-limb short stature, Short toe, Postnatal growt... |
ORPHA:709 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy |
OMIM:619103 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Diabetes mellitus |
ORPHA:500159 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Dysphagia |
OMIM:601104 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Long philtrum, Micrognathia, Median cleft upper lip, Smooth ph... |
ORPHA:96149 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
White-Sutton Syndrome |
|
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Tics... |
OMIM:616364 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Abnormality of circulatin... |
ORPHA:3385 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:397612 |
Microphthalmia, Syndromic 2 |
|
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... |
OMIM:300166 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Hypoplasti... |
OMIM:611717 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... |
OMIM:614188 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... |
ORPHA:457279 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Charge Syndrome |
|
Bifid femur, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Short thumb, Hand monodact... |
OMIM:214800 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Motor stereotypy, Dysphagia |
OMIM:617802 |
Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Micrognathia, Bifid tongue, Super... |
OMIM:615948 |
Achondroplasia |
|
Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Obesity, Trident hand, Narro... |
ORPHA:15 |
Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume... |
ORPHA:733 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance... |
OMIM:300352 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Oral aversion, Lethargy... |
ORPHA:470 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Dilatation of the ventricular cavity, Hyperbilirubi... |
OMIM:619991 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Motor stereotypy, Compulsive behaviors |
OMIM:613174 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Hypoplasia of proximal radius, Decreased response to growth hormone stimulation test,... |
ORPHA:444077 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Supernumerary tooth, Odontoma |
ORPHA:247806 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia |
OMIM:619428 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Dysphagia |
ORPHA:572013 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Attention deficit hyperactivity disorder, Anteri... |
OMIM:619841 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Mental deterioration, Short attention span, Gait ataxia, Dysmetria, Hyperactivity, Dysphagia, Dys... |
OMIM:610217 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Mesiodens, Narrow mouth, Long philtrum, Thick lower lip vermilion |
ORPHA:314647 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... |
OMIM:620330 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog... |
ORPHA:85167 |
Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Motor stereotypy, Overfriendliness |
OMIM:616579 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Hypodontia, Talon cusp, Narrow ... |
ORPHA:353281 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bifid tongue, Supernumerary toot... |
ORPHA:434179 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Hypoplastic n... |
OMIM:181450 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp... |
ORPHA:476126 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,... |
OMIM:615503 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb short stature, Fl... |
OMIM:187600 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis |
ORPHA:544482 |
3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
ORPHA:435638 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Dysp... |
ORPHA:94068 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft upper lip, Hypodontia, Supernumerary tooth, Accessory oral frenulum |
OMIM:617088 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal cupping, Rhizomelia, Flared metaphysis, Short finger, Postnatal growth retardation, F... |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Disproportionate short-trunk short stature, Broad phalanx, Flat acetabular roof... |
OMIM:300106 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Delayed puberty, Anterior pituita... |
ORPHA:466791 |
Hydroxykynureninuria |
|
Motor stereotypy |
ORPHA:79155 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Xerostomia, Ectrodactyly, Decreased response to growth hormone stimulation test, ... |
OMIM:604292 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Broad-based gait, Increased circulating prolactin concentration, Inability to... |
ORPHA:438213 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponatrem... |
ORPHA:731 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hip dislocat... |
ORPHA:93357 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Short attention span, Emotional lability, Spastic ataxia, Motor stereotypy |
ORPHA:300570 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo... |
OMIM:184253 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... |
ORPHA:99819 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis |
ORPHA:261197 |
2Q37 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1001 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Holoprosencephaly 7 |
|
Panhypopituitarism, Fusion of the left and right thalami |
OMIM:610828 |
Rauch-Steindl Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619695 |
Nmda Receptor Encephalitis |
|
Depression, Memory impairment, Neoplasm of the thymus, Confusion, Short attention span, Motor ste... |
ORPHA:217253 |
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:620494 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Xerostomia, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:129900 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Neonatal short-limb short stature, Radial bowi... |
OMIM:151210 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Frequent temper tantrums, Short attention span, Attention ... |
OMIM:619575 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy... |
ORPHA:353277 |
Den Hoed-De Boer-Voisin Syndrome |
|
Inability to walk, Short attention span, Stereotypical hand wringing, Dysphagia, Ataxia, Motor st... |
OMIM:619229 |
Xylt1-Cdg |
|
Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Short clavicles, Short long bone, Tru... |
ORPHA:370930 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short distal phalanx of finger, Abnormal circulating osteocalcin level, Clinodactyly, Upper limb ... |
ORPHA:93315 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Hypoplastic ilia, Broad long bones, Clubbing of fingers, Cryptorchidism, Sh... |
ORPHA:1865 |
Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Neoplasm of the pancreas, Pancreatic islet cell adenoma... |
ORPHA:892 |
Bloom Syndrome |
|
Agenesis of maxillary lateral incisor, Malar flattening |
OMIM:210900 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Finger synda... |
ORPHA:1106 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho... |
OMIM:215150 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... |
ORPHA:424 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Apl... |
ORPHA:2502 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Bruxism, Aggressive behavior, Tongue thrusting, Unsteady gait, Motor stereotypy |
OMIM:606232 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Metaphyseal cupping, Disproportionate short-limb short... |
OMIM:215140 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Emotional lability, Cognitive impairment, Ataxia, Tics, Motor stereotypy, Depre... |
OMIM:619475 |
Joubert Syndrome 6 |
|
Motor stereotypy, Ataxia |
OMIM:610688 |
Dpagt1-Cdg |
|
Head-banging, Inability to walk, Stereotypical body rocking, Akinesia, Aggressive behavior, Ataxia |
ORPHA:86309 |
Niemann-Pick Disease, Type C2 |
|
Dementia, Motor stereotypy, Dysphagia, Ataxia |
OMIM:607625 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Severe short stature, Neonatal short-limb short stature, Broad long bones, Bowing of the long bon... |
OMIM:224400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor... |
ORPHA:93352 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy |
OMIM:212066 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Motor stereotypy, Ataxia |
ORPHA:2479 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
Myhre Syndrome |
|
Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial deviation of finger, Hypopla... |
OMIM:139210 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Fractured rib, Metaphyseal spurs, Femoral bowing, Ovarian cyst, Short long b... |
OMIM:618188 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Tip-toe gait, Varus deformity of humer... |
OMIM:252500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Hypop... |
OMIM:271640 |
Kleefstra Syndrome 1 |
|
Compulsive behaviors, Aggressive behavior, Motor stereotypy |
OMIM:610253 |
Atelosteogenesis Type I |
|
Rhizomelia, Abnormal pancreatic duct morphology, Neonatal short-trunk short stature, Abnormal oss... |
ORPHA:1190 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Type I diabetes mellitus, Xerostomia, Graves disease, Anterior pituitary dysgenesis, Aut... |
ORPHA:227982 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Inappropriate laughter, Motor stereotypy |
OMIM:615802 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Ankyloglossia, Micrognathia, Supernumerary tooth |
OMIM:619525 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne... |
OMIM:225500 |
White-Sutton Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
ORPHA:468678 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Multiple Osteochondromas |
|
Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Abnormal fibula morphology, Abn... |
ORPHA:321 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Metaphyseal cupping, Rhizomelia, Disproportionate short-limb short stature, Radial bowing, Short ... |
OMIM:618019 |
Monosomy 22Q13.3 |
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Bruxism, Hyperactivity, Hair-pulling |
ORPHA:48652 |
Bainbridge-Ropers Syndrome |
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Self-injurious behavior, Precocious puberty, Inability to walk, Recurrent hand flapping, Motor st... |
OMIM:615485 |
Lethal Congenital Contracture Syndrome 10 |
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Overlapping fingers, Femoral bowing, Intrauterine growth retardation, Hypoplasia of the thymus, A... |
OMIM:617022 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Self-injurious behavior, Motor stereotypy, Inability to walk |
ORPHA:457351 |
8Q24.3 Microdeletion Syndrome |
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Microretrognathia, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Mesiodens, Cleft max... |
ORPHA:508488 |
Arthrogryposis Multiplex Congenita 5 |
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Akinesia |
OMIM:618947 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Dispropor... |
OMIM:250220 |
Mucopolysaccharidosis Type 2 |
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Abnormal temper tantrums, Mental deterioration, Oppositional defiant disorder, Short attention sp... |
ORPHA:580 |
Kleefstra Syndrome |
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Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation |
ORPHA:261494 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Motor stereotypy |
OMIM:300672 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Motor stereotypy, Choreoath... |
ORPHA:522077 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Type I diabetes mellitus, Xerostomia, Anterior pituitary dysgenesis, Central diabetes in... |
ORPHA:227990 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation |
OMIM:619005 |
7Q11.23 Microduplication Syndrome |
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Self-injurious behavior, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism... |
ORPHA:96121 |
Peters-Plus Syndrome |
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Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Micrognathia, Sho... |
OMIM:261540 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Motor stereotypy, Dysphagia, Ataxia |
ORPHA:496641 |
Alström Syndrome |
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Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... |
ORPHA:64 |
Axenfeld-Rieger Syndrome, Type 1 |
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Decreased response to growth hormone stimulation test |
OMIM:180500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchidism, Fibular hypopl... |
OMIM:616300 |
Cornelia De Lange Syndrome 6 |
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Compulsive behaviors, Hair-pulling |
OMIM:620568 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Short stature, Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia |
OMIM:619534 |
Van Esch-O'Driscoll Syndrome |
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Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Motor stereotypy, Impuls... |
OMIM:301030 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... |
OMIM:201750 |
Pitt-Hopkins Syndrome |
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Self-injurious behavior, Gait ataxia, Motor stereotypy |
OMIM:610954 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Compulsive behaviors, Motor ste... |
OMIM:619512 |
Campomelic Dysplasia |
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Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... |
OMIM:114290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Aggressive behavior, Motor stereotypy, Short attention span |
OMIM:301066 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy, Posterior pituitary... |
ORPHA:464311 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di... |
OMIM:614756 |
Igg4-Related Ophthalmic Disease |
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Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Enlarge... |
ORPHA:449563 |
Igg4-Related Kidney Disease |
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Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Weight loss, Thyr... |
ORPHA:449395 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, Motor stereotypy |
OMIM:617330 |
Developmental And Epileptic Encephalopathy 100 |
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Gait ataxia, Motor stereotypy, Dysphagia, Choreoathetosis |
OMIM:619777 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Motor stereotypy |
ORPHA:508533 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Motor stereotypy |
OMIM:301040 |
Kinsship Syndrome |
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Bruxism, Motor stereotypy |
OMIM:619297 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Triangular shaped distal phalanges of the hand, Broad metacarpals, Disproportionate short-limb sh... |
OMIM:271665 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Pineal... |
ORPHA:513456 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Difficulty walking, Motor stereotypy |
OMIM:618653 |
Ogden Syndrome |
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Maternal diabetes, Motor stereotypy, Dysphagia, Irritability |
OMIM:300855 |
Pmm2-Cdg |
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Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... |
ORPHA:79318 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Self-injurious behavior, Motor stereotypy |
ORPHA:468631 |
Norrie Disease |
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Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, Delayed puberty,... |
ORPHA:649 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Loss of ambulation, Unsteady gait, Motor stereotypy, Precocious puberty |
OMIM:616682 |
Infantile Dystonia-Parkinsonism |
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Chorea, Irritability, Bradykinesia |
ORPHA:238455 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Motor stereotypy |
ORPHA:508498 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Motor stereotypy, Hyperactivity |
OMIM:309590 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Hypogonadism, Polyphagia, Gait disturbance, Hypothyroidism, Dysphagia, M... |
ORPHA:1606 |
Primrose Syndrome |
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Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Hypothyro... |
OMIM:259050 |
Microphthalmia, Syndromic 1 |
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High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Orofacial cleft, Agenes... |
OMIM:309800 |
Arboleda-Tham Syndrome |
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Gait imbalance, Motor stereotypy, Dysphagia |
OMIM:616268 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Motor stereotypy |
OMIM:301044 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia |
OMIM:619522 |
Coffin-Siris Syndrome 12 |
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Hypothyroidism, Motor stereotypy |
OMIM:619325 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Motor stereotypy |
OMIM:612474 |
Lowe Oculocerebrorenal Syndrome |
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Aggressive behavior, Motor stereotypy |
OMIM:309000 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Motor stereotypy |
OMIM:194190 |
Parkinsonism-Dystonia 1, Infantile-Onset |
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Bradykinesia |
OMIM:613135 |
Mowat-Wilson Syndrome |
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Broad-based gait, Inability to walk, Bruxism, Dysphagia, Ataxia, Motor stereotypy |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Inability to walk, Bruxism, Dysphagia, Motor stereotypy |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Inability to walk, Bruxism, Dysphagia, Motor stereotypy |
ORPHA:261552 |