Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus... |
OMIM:300067 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Nodular Neuronal Heterotopia |
|
Seizure, Abnormality of neuronal migration |
ORPHA:2149 |
Lissencephaly 3 |
|
Agyria, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Seizure, Gray matter... |
OMIM:611603 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Motor seizure, Infantile spasms, Gray matter heterotopia, Seizure, Pachygyria, Agyria |
ORPHA:1084 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of ... |
ORPHA:101029 |
Periventricular Nodular Heterotopia 6 |
|
Seizure, Periventricular nodular heterotopia, Focal motor seizure, Infantile spasms |
OMIM:615544 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Microlissencephaly |
|
Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized onset, Periventricular h... |
ORPHA:1083 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Seizure, Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Generalized-onset seizure, Infantile spasms, Myoclonic seizure, Lissencephaly, Periventricular ri... |
OMIM:618677 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism, Simplified gyral patte... |
OMIM:604317 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Periventricular nodular heterotopia |
OMIM:618185 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lateral ventricle ... |
OMIM:600348 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Seizure, Dysgyria, Type II lisse... |
ORPHA:352682 |
Hemimegalencephaly |
|
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Gray matter heterotopia, Stat... |
ORPHA:99802 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Seizure, Periventricular nodular heterotopia |
OMIM:618572 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Focal-onset seizure, Partial agenesis of the corpus callosum, Myelomenin... |
ORPHA:101030 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Bilateral Striopallidodentate Calcinosis |
|
Seizure, Abnormality of neuronal migration |
ORPHA:1980 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Polymicrogyria Due To Tubb2B Mutation |
|
Focal-onset seizure, Perisylvian polymicrogyria, Seizure, Gray matter heterotopia, Lateral ventri... |
ORPHA:300573 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Se... |
OMIM:615191 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Symmetrical Thalamic Calcifications |
|
Seizure, Abnormality of neuronal migration |
ORPHA:1314 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Maternal Hyperthermia-Induced Birth Defects |
|
Seizure, Abnormality of neuronal migration |
ORPHA:2216 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clonic seizure, Polymicrogyria |
OMIM:614483 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M... |
OMIM:616212 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Seizure, Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heter... |
OMIM:616171 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Periventricular nodular heterotopia |
OMIM:620065 |
Leber Congenital Amaurosis |
|
Encephalocele, Seizure, Abnormality of neuronal migration |
ORPHA:65 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Seizure, Agenesis... |
ORPHA:89844 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Seizure, Agenesis of corpus callosum |
OMIM:164180 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Seizure, Abnormality of neuronal migration |
OMIM:300049 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Seizure, Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Gray matter h... |
OMIM:617201 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizur... |
OMIM:620024 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Edinburgh Malformation Syndrome |
|
Seizure, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Seizure, Holoprosencephaly |
ORPHA:93274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus ... |
OMIM:614643 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Abnormality of neuronal migration, Mac... |
ORPHA:899 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Seizure |
OMIM:617008 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Tetrasomy 18P |
|
Seizure, Abnormality of neuronal migration |
ORPHA:3307 |
Neurocutaneous Melanocytosis |
|
Seizure, Meningocele, Abnormality of neuronal migration, Death in infancy |
ORPHA:2481 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Seizure |
OMIM:300337 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Se... |
OMIM:615219 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Cryptorchidism, Seizure, Lissencephaly, Death in childhood, Pachygyria, Agenesis of corpus callosum |
OMIM:620316 |
Desmosterolosis |
|
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Seizure... |
ORPHA:35107 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Seizure |
OMIM:617622 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... |
OMIM:207950 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Seizure |
OMIM:619694 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Seizure, Polymicrogyria, Agenesi... |
ORPHA:370959 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Neonatal Adrenoleukodystrophy |
|
Seizure, Abnormality of neuronal migration |
ORPHA:44 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Seizure, Abnormality of neuronal migration |
OMIM:300957 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Seizure, Congenital macroorchidism, Periventricular heterotopia |
OMIM:300624 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Seizure, Polymicrogyria, Gray matter heterotopia |
OMIM:614887 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Seizure, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
ORPHA:255138 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Abnormality of neuronal migration |
ORPHA:2772 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Abnormality of neuronal mig... |
ORPHA:163681 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Seizure, Periventricular heterotopia |
OMIM:618974 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Seizure, Hydrocephalus |
ORPHA:2655 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Seizure, Polymicrogyria |
ORPHA:475 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Seizure, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Vici Syndrome |
|
Gray matter heterotopia, Seizure, Agenesis of corpus callosum, Death in infancy |
ORPHA:1493 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Seizure, Hydrocephalus |
OMIM:219730 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
Periventricular Nodular Heterotopia |
|
Focal-onset seizure, Periventricular heterotopia |
ORPHA:98892 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis o... |
ORPHA:157 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Seizure, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:2318 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Seizure, Abnormality of neuronal migration |
ORPHA:2518 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Seizure, Abnormality of neuronal migration |
ORPHA:2063 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
16P13.11 Microdeletion Syndrome |
|
Generalized-onset seizure, Cryptorchidism, Abnormality of neuronal migration, Holoprosencephaly, ... |
ORPHA:261236 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Seizure |
ORPHA:531151 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Holoprosencephaly 14 |
|
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular he... |
OMIM:619895 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Seizure, Hydrocephalus, Lissencephaly |
OMIM:617822 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis o... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of corpus ... |
OMIM:608836 |
3C Syndrome |
|
Death in infancy, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:7 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Infantile spasms, Periventricular heterotopia, Cryptorchidism, Focal impaired awareness seizure, ... |
OMIM:618929 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Seizure, Hydrocephalus |
ORPHA:1860 |
Miller-Dieker Lissencephaly Syndrome |
|
Epileptic spasm, Infantile spasms, Cryptorchidism, Seizure, Gray matter heterotopia, Lissencephal... |
OMIM:247200 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Seizure, Agenesis of corpus callosum |
OMIM:619312 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Man1B1-Cdg |
|
Seizure, Periventricular heterotopia |
ORPHA:397941 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Focal-onset seizure, Hydrocephalus, Seizure, Agenesis of corpus call... |
OMIM:618476 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Coffin-Lowry Syndrome |
|
Seizure, Death in early adulthood, Abnormality of neuronal migration |
ORPHA:192 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Joubert Syndrome With Hepatic Defect |
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Seizure, Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1454 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Hydrocephalus, Colpocephaly, Periventricular heterotopia |
OMIM:619833 |
Fibrous Dysplasia Of Bone |
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Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Alg11-Cdg |
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Gray matter heterotopia, Seizure |
ORPHA:280071 |
Bilateral Perisylvian Polymicrogyria |
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Infantile spasms, Focal-onset seizure, Perisylvian predominant thick cortex pachygyria, Abnormali... |
ORPHA:98889 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia, Infantile spasms |
OMIM:618797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... |
OMIM:615287 |
Mccune-Albright Syndrome |
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Hypophosphatemia |
ORPHA:562 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Seizure,... |
ORPHA:75857 |
Raine Syndrome |
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Hypophosphatemia |
OMIM:259775 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Congenital Disorder Of Deglycosylation 2 |
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Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria |
OMIM:619775 |
Cystinosis, Nephropathic |
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Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
Aicardi Syndrome |
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Epileptic spasm, Infantile spasms, Spina bifida, Partial agenesis of the corpus callosum, Seizure... |
OMIM:304050 |
Neuromuscular Oculoauditory Syndrome |
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Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Infantile spasms, Periventricular he... |
OMIM:618733 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Cryptorchidism, Gray matter heterotopia, Seizure, Periventricular nodular heteroto... |
OMIM:603671 |
Pearson Syndrome |
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Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
16Q24.3 Microdeletion Syndrome |
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Cryptorchidism, Colpocephaly, Seizure, Periventricular heterotopia |
ORPHA:261250 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Death in infancy, Abnormal cortical gyration, Cryptorchidism, Partial agenesis of the corpus call... |
OMIM:210710 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Cryptorchidism, Gray matter heterotopia, Seizure, Death in childhood, Polymicrogyria |
OMIM:214100 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Seizure, Agenesis of corpus callosum |
OMIM:605039 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Periventricular heterotopia, Cryptorchidism, Simplified gyral pattern, Lobar holoprosencephaly, S... |
ORPHA:468631 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gray matter heterotopia, Seizure |
ORPHA:26791 |
Holoprosencephaly |
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Encephalocele, Cryptorchidism, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphis... |
ORPHA:2162 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Orofaciodigital Syndrome Type 6 |
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Bilateral cryptorchidism, Seizure, Abnormality of neuronal migration |
ORPHA:2754 |
Parathyroid Carcinoma |
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Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Pagod Syndrome |
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Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration, Ab... |
ORPHA:991 |
Opitz-Kaveggia Syndrome |
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Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia, ... |
OMIM:305450 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Dent Disease |
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Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Van Maldergem Syndrome 2 |
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Gray matter heterotopia, Cryptorchidism, Periventricular nodular heterotopia, Subcortical band he... |
OMIM:615546 |
Cerebrofacioarticular Syndrome |
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Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum |
ORPHA:314679 |
Autosomal Recessive Malignant Osteopetrosis |
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Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia, Cryptorchidism, Seizure |
OMIM:610443 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Periventricular heterotopia |
OMIM:618870 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Focal-onset seizure, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Seizure, Ag... |
OMIM:311200 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Cryptorchidism, Seizure, Abnormality of neuronal migration, Simple febrile seizure |
ORPHA:464311 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Orofaciodigital Syndrome Xvi |
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Gray matter heterotopia |
OMIM:617563 |
Genitourinary And/Or Brain Malformation Syndrome |
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Cryptorchidism, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosenceph... |
OMIM:618820 |
X-Linked Hypophosphatemia |
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Hypophosphatemia |
ORPHA:89936 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Cryptorchidism, Seizure |
ORPHA:453499 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... |
OMIM:236680 |
Vici Syndrome |
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Gray matter heterotopia, Seizure, Agenesis of corpus callosum |
OMIM:242840 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Cryptorchidism, Typical absence seizure, Gray matter heterotopia, Seizure, Agenesis of corpus cal... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Cryptorchidism, Typical absence seizure, Gray matter heterotopia, Seizure, Agenesis of corpus cal... |
ORPHA:352665 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Fontaine Progeroid Syndrome |
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Death in infancy, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Gray matter heterot... |
OMIM:612289 |
Smith-Lemli-Opitz Syndrome |
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Death in infancy, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the corpus cal... |
OMIM:270400 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the cor... |
OMIM:615948 |
Nijmegen Breakage Syndrome |
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Abnormality of neuronal migration |
ORPHA:647 |
Arima Syndrome |
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Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
Proteus Syndrome |
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Macroorchidism, Seizure, Testicular neoplasm, Gray matter heterotopia |
ORPHA:744 |
Genitopatellar Syndrome |
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Periventricular heterotopia, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:606170 |
Orofaciodigital Syndrome Type 14 |
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Bilateral cryptorchidism, Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Periventricular heterotopia, Cryptorchidism, Focal-onset seizure, Hydrocele testis, Seizure, Late... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Periventricular heterotopia, Cryptorchidism, Focal-onset seizure, Hydrocele testis, Seizure, Stat... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Periventricular heterotopia, Cryptorchidism, Focal-onset seizure, Hydrocele testis, Seizure, Late... |
ORPHA:261552 |