Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques |
|
Substantia nigra gliosis |
OMIM:125320 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Leptin Receptor Deficiency |
|
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, O... |
OMIM:614963 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Cognitive impairment |
ORPHA:397725 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Dementia, Thalamic calcification, Cognitive impairment |
OMIM:615483 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Anterior hypopituitarism, Abnormal midbrain morph... |
ORPHA:280195 |
Joubert Syndrome 10 |
|
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Duplication Of The Pituitary Gland |
|
Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth... |
ORPHA:314621 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Thalamic calcification |
OMIM:618317 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:617562 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification |
OMIM:618824 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Failure to thrive, Decreased thalamic volume |
OMIM:613668 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume, Cerebellar hypoplasia |
OMIM:619072 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... |
OMIM:615440 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... |
OMIM:617622 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... |
ORPHA:54595 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Short stature, Abnormal brainstem m... |
ORPHA:1532 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Memory impairment, T2 hypointense thalamus, Dementia |
OMIM:618193 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis |
OMIM:620241 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Large for gestational age |
OMIM:617757 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Abnormal brai... |
ORPHA:467166 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Attention deficit hyperactivity disorder, Hypothalamic hamartoma |
ORPHA:649929 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis |
OMIM:615665 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Attention deficit hyperactivity disorder |
OMIM:618929 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Mental deterioration, Dementia, Hypothalamic atrophy, Memory impairment |
ORPHA:2822 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
Alexander Disease Type I |
|
Cerebellar atrophy, Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Small for gestational age, Growth delay, Focal T2 hyperintense thalamic les... |
OMIM:619057 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft |
OMIM:617542 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... |
ORPHA:101070 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short stature, Decreased response to g... |
OMIM:619476 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Failure to thrive, Abnormal brainstem morphology |
ORPHA:255182 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis |
OMIM:614815 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Failure to thrive in infancy, At... |
ORPHA:356961 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Hypothalamic hamartoma |
OMIM:619908 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:619306 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... |
OMIM:610688 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature, Obesity |
OMIM:619185 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619111 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Motor deterioration, Cognitive impairment, Dementia |
ORPHA:1947 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... |
ORPHA:370959 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Cach Syndrome |
|
Cerebellar atrophy, T2 hypointense thalamus, Growth delay, Abnormal pons morphology, Atrophy/Dege... |
ORPHA:135 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Progressive neurologic deterioration |
ORPHA:254881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:615181 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysp... |
OMIM:613155 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis, Dandy-Wa... |
OMIM:611134 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Delayed early-childhood social milest... |
ORPHA:300570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the br... |
OMIM:613153 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... |
ORPHA:444072 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Dementia, Progressive language deterioration, Cognitive im... |
ORPHA:79264 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Cerebellar vermis hypoplasia, Short stature, Rhizomelic leg shortening, Abnorm... |
ORPHA:397715 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... |
OMIM:608091 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Abnormal brainstem morphology, Impaired social interact... |
ORPHA:8 |
Joubert Syndrome 14 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brai... |
OMIM:614424 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Hsd10 Disease |
|
Postnatal growth retardation, Abnormal social behavior |
ORPHA:391417 |
Pallister-Hall-Like Syndrome |
|
Chiari type I malformation, Anterior hypopituitarism, Short stature, Hypothalamic hamartoma |
OMIM:241800 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology |
ORPHA:88619 |
New-Onset Refractory Status Epilepticus |
|
Confusion, Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:363558 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Short stature, Growth delay, Hypothalamic hamartoma, Molar tooth si... |
ORPHA:2754 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Short stature, Abnormal br... |
ORPHA:2720 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy |
OMIM:207950 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Abnormality of the diencep... |
ORPHA:2570 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Obesity |
ORPHA:444002 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Foc... |
ORPHA:79139 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Overweight, Cerebellar vermis hypoplasia |
OMIM:619562 |
Coach Syndrome 1 |
|
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the ce... |
OMIM:216360 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Subcortical dementia, Abnormal thalamic MRI signal intensity, Frontal lo... |
ORPHA:157846 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... |
ORPHA:163961 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI |
OMIM:612291 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Joubert Syndrome 1 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of t... |
OMIM:213300 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Short stature, Hypothalamic hamartoma, Molar tooth sign on MRI, Fai... |
OMIM:277170 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:70595 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI, Small pituitary gland, Disproportio... |
OMIM:619479 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:2318 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal midbrain morpholog... |
ORPHA:293987 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:220497 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:404440 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Impaired social interactions, Hypothalamic hamartoma |
OMIM:619775 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Growth delay, Cerebellar atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... |
ORPHA:1908 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Short stature |
ORPHA:557003 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:220493 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Agenesis of cerebella... |
ORPHA:59315 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesi... |
ORPHA:506 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Cerebellar hypoplasia |
OMIM:616202 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... |
OMIM:243910 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:616300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Mild postnatal growth retardation |
ORPHA:530983 |
Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology, Abnormal thalamic MRI si... |
ORPHA:83597 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Cognitive impairment |
ORPHA:2959 |
Crome Syndrome |
|
Short stature, Cerebellar dysplasia |
OMIM:218900 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... |
OMIM:610188 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Aceruloplasminemia |
|
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:48818 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:616546 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Meningioma |
|
Enlarged pituitary gland, Hypothalamic hypothyroidism, Reduced circulating prolactin concentratio... |
ORPHA:2495 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Tay-Sachs Disease |
|
Memory impairment, Abnormal thalamic MRI signal intensity, Short attention span |
ORPHA:845 |
Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation |
ORPHA:2311 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Chiari malformation, Cerebellar hypoplasia, Molar tooth sign on MRI, In... |
OMIM:249000 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Dandy-Walker malforma... |
ORPHA:434179 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Hypopituitarism, Meningocele |
ORPHA:1827 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation |
ORPHA:1393 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Abnormal brainstem morphology, Birth length less than 3rd percentile, ... |
ORPHA:464311 |
Fg Syndrome Type 1 |
|
Abnormal social behavior, Short stature, Slender build |
ORPHA:93932 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Pallister-Hall Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Neo... |
OMIM:146510 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Obesity |
ORPHA:96263 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Short stature, Decreased thalamic volume |
ORPHA:168577 |
Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Bickerstaff Brainstem Encephalitis |
|
Confusion, Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Hydrocephalus, Meningocele |
OMIM:130720 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dandy-Walker malfor... |
OMIM:615948 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele |
ORPHA:2789 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Hyperhidrosis |
ORPHA:2874 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida, Opisthotonus |
ORPHA:2671 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Prader-Willi Syndrome Due To Translocation |
|
Short stature, Obesity, Impaired social interactions, Intrauterine growth retardation, Abnormal s... |
ORPHA:177907 |
Pallister-Hall Syndrome |
|
Short stature, Large for gestational age, Adrenocorticotropic hormone deficiency, Gonadotropin de... |
ORPHA:672 |
Orofaciodigital Syndrome I |
|
Short stature, Hypothalamic hamartoma, Cerebellar cyst |
OMIM:311200 |
Semilobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal brainstem morpholo... |
ORPHA:93924 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:99776 |
Trisomy 18 |
|
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Spina bifida |
OMIM:234100 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Hypoplasia of the brainstem, Panhypopituitarism |
OMIM:610828 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Postnatal growth retardation, Inappropriate laughter, Abnormal social ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Postnatal growth retardation, Inappropriate laughter, Abnormal social ... |
ORPHA:363958 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida |
ORPHA:2092 |
Mend Syndrome |
|
Failure to thrive, Abnormal social behavior, Short stature |
ORPHA:401973 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Williams Syndrome |
|
Short stature, Failure to thrive in infancy, Abnormality of the diencephalon, Obesity, Chiari mal... |
ORPHA:904 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior |
ORPHA:309256 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomen... |
ORPHA:567 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior |
ORPHA:309263 |
Norrie Disease |
|
Failure to thrive, Cachexia, Delayed puberty, Aplasia/Hypoplasia of the cerebellum, Abnormality o... |
ORPHA:649 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydranencephaly, ... |
OMIM:256520 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Exocrine pancreatic insufficiency |
ORPHA:508498 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Meningocele |
ORPHA:2879 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormal social behavior |
ORPHA:309271 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida |
OMIM:619480 |
Jacobsen Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2308 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Fanconi Anemia |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Intrauterine growth retardation |
ORPHA:84 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior |
ORPHA:1675 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida occulta, Spina bifida |
OMIM:180849 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation |
OMIM:192350 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior |
ORPHA:805 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior |
ORPHA:646 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |