Epilepsy, Familial Temporal Lobe, 1 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... |
OMIM:619598 |
Femoral-Facial Syndrome |
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Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Cryptorchi... |
ORPHA:1988 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Developmental And Epileptic Encephalopathy 9 |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... |
OMIM:612447 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Micrognathia, Flat capital... |
OMIM:147891 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Benign Familial Infantile Epilepsy |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Short femur, Hypospadias, Small for gestational age, Fractured radius, Cardiomegaly, Micrognathia... |
OMIM:616897 |
Cog7-Cdg |
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Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Abnormality of the kidney... |
ORPHA:79333 |
Developmental And Epileptic Encephalopathy 94 |
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Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Short femur, Rhizomelia, Hypospadias, Small for gestational age, Sandal gap, Crypt... |
OMIM:607143 |
Paget Disease Of Bone 2, Early-Onset |
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Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing... |
OMIM:602080 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A... |
ORPHA:1860 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Galactokinase Deficiency |
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Abnormal circulating enzyme concentration or activity, Hepatomegaly, Premature ovarian insufficie... |
ORPHA:79237 |
Febrile Seizures, Familial, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 5 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Atelosteogenesis Type Ii |
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Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Adenine Phosphoribosyltransferase Deficiency |
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Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Developmental And Epileptic Encephalopathy 24 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Fanconi-Bickel Syndrome |
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Nephrocalcinosis, Nephropathy, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
ORPHA:2088 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Epilepsy, Familial Temporal Lobe, 2 |
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Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Atelosteogenesis Type I |
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Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Short femur, Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seiz... |
OMIM:617798 |
3-Methylglutaconic Aciduria, Type V |
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Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... |
OMIM:610198 |
Orofaciodigital Syndrome Vi |
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11 pairs of ribs, Brachydactyly, Toe syndactyly, Renal agenesis, Short stature, Short femur, Micr... |
OMIM:277170 |
Pelviscapular Dysplasia |
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Congenital hip dislocation, Short stature, Short femur, Hypoplastic scapulae, Hypoplastic ilia, H... |
ORPHA:93333 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Short femur, Cardiomegaly, Glandular hypospadias, Seizure, Focal impaired awareness seizure, Tali... |
OMIM:620306 |
Hypomagnesemia 2, Renal |
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Renal insufficiency, Renal magnesium wasting, Seizure, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Fanconi Renotubular Syndrome 1 |
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Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
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Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... |
ORPHA:79303 |
Achondroplasia |
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Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased response to gr... |
OMIM:614732 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Knee... |
OMIM:210710 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Spondyloepiphyseal Dysplasia Congenita |
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Short femur, Micrognathia, Abnormal foot morphology, Disproportionate short-trunk short stature, ... |
ORPHA:94068 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Short stature, Bowing of the legs, Trapezoidal distal femoral condy... |
OMIM:307800 |
Hyperparathyroidism, Transient Neonatal |
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Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, E... |
OMIM:618188 |
Ivic Syndrome |
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Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Dent Disease 1 |
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Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300009 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Osteogenesis Imperfecta, Type X |
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Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Micrognathia, Nephr... |
OMIM:613848 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Acromesomelic Dysplasia 3 |
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Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Late-Onset Familial Hypoaldosteronism |
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Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
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Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Seizure, Hip dysplasi... |
OMIM:617219 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Short stature,... |
OMIM:616026 |
Catel-Manzke Syndrome |
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Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retardation, Cryptor... |
OMIM:616145 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Isolated Biliary Atresia |
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Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatomegaly, Seizure, Acholic stools, ... |
ORPHA:30391 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Enlargement of the ankles, Elevated alkaline phosphatase of bone origin, Short stature, Irregular... |
ORPHA:289157 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... |
ORPHA:93324 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
8Q24.3 Microdeletion Syndrome |
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Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, ... |
ORPHA:508488 |
Primary Hyperoxaluria Type 3 |
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Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagla... |
ORPHA:73224 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Pes planus, Short femur, Short stature, Talipes, Micrognathia, Hypercalciuria, Nephrocalcinosis, ... |
OMIM:300990 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... |
ORPHA:96179 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Short humerus, Short femur, Short stature, Tonic seizure, Tapered finger, Seizure, Atonic seizure... |
OMIM:618367 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Pelvis-Shoulder Dysplasia |
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Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Short stature, C... |
ORPHA:2839 |
Wiedemann-Rautenstrauch Syndrome |
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Micrognathia, Hypoplasia of the thymus, Genu varum, Long toe, Short stature, Hypospadias, Cryptor... |
OMIM:264090 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Proximal placement of thumb,... |
OMIM:616263 |
Posterior Urethral Valve |
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Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Thalidomide Embryopathy |
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Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Short stature, Hypercholesterolemia, Camptodactyly of fin... |
OMIM:309000 |
Femoral-Facial Syndrome |
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Short fourth metatarsal, Maternal diabetes, Micrognathia, Micropenis, Short stature, Cryptorchidi... |
OMIM:134780 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Bifid femur, Seizure, Aplasia/hypoplasia of the femur, Clinodact... |
ORPHA:2769 |