Leptin Receptor Deficiency |
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Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A... |
OMIM:614963 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Craniopharyngioma |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... |
ORPHA:54595 |
Dystonia 30 |
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Hypothalamic hamartoma |
OMIM:619291 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Growth delay, Intrauterine growth retardation, Severe short stature, Focal T2 hyperintense thalam... |
OMIM:619057 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
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Decreased thalamic volume |
OMIM:618646 |
Duplication Of The Pituitary Gland |
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Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature |
ORPHA:314621 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Interhypothalamic adhesion |
OMIM:618929 |
Coasy Protein-Associated Neurodegeneration |
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Abnormal thalamus morphology |
ORPHA:397725 |
Central Precocious Puberty In Male |
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Pituitary microadenoma, Hypothalamic hamartoma |
ORPHA:649929 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
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Decreased thalamic volume |
OMIM:613668 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Hypothalamic atrophy |
ORPHA:2822 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal hypothalamus morphology |
ORPHA:68 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
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Thalamic calcification |
OMIM:618824 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Decreased thalamic volume |
OMIM:619072 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Growth delay, Hypothalamic hamartoma |
OMIM:619908 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Thalamic calcification |
OMIM:615483 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Thalamic calcification |
OMIM:618317 |
Pallister-Hall-Like Syndrome |
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Anterior hypopituitarism, Short stature, Hypothalamic hamartoma |
OMIM:241800 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Intrauterine growth retardation, Abnormality of the diencephalon |
ORPHA:2570 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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T2 hypointense thalamus |
OMIM:618193 |
Alexander Disease Type I |
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Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Oculoskeletodental Syndrome |
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Abnormal thalamus morphology, Short stature |
ORPHA:557003 |
Panhypophysitis |
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Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Tubulinopathy-Associated Dysgyria |
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Abnormal thalamus morphology |
ORPHA:467166 |
Adenohypophysitis |
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Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Spinocerebellar Ataxia With Epilepsy |
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Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
Cach Syndrome |
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Growth delay, T2 hypointense thalamus, Intrauterine growth retardation |
ORPHA:135 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Fusion of the left and right thalami |
OMIM:617542 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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T2 hypointense thalamus |
ORPHA:1947 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Abnormal thalamus morphology |
ORPHA:404440 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Postnatal growth retardation, Abnormal thalamus morphology |
ORPHA:300570 |
Hydranencephaly |
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Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Abnormal thalamus morphology, Short stature, Delayed puberty |
ORPHA:2959 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal thalamus morphology |
ORPHA:88619 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of the diencephalon, Short stature |
ORPHA:2720 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
3P25.3 Microdeletion Syndrome |
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Abnormal thalamus morphology |
ORPHA:435638 |
New-Onset Refractory Status Epilepticus |
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Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Growth delay, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Sandhoff Disease, Infantile Form |
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Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Neuroferritinopathy |
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T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Pallister-Hall Syndrome |
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Short stature, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Neo... |
OMIM:146510 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Decreased thalamic volume |
ORPHA:370959 |
Japanese Encephalitis |
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Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology |
ORPHA:79139 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Postnatal growth retardation, Short stature, Decreased thalamic volume |
ORPHA:168577 |
Microphthalmia, Syndromic 3 |
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Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Rhombencephalosynapsis |
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Fusion of the left and right thalami |
ORPHA:59315 |
Leigh Syndrome |
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Growth delay, Intrauterine growth retardation, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Orofaciodigital Syndrome Type 6 |
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Growth delay, Short stature, Hypothalamic hamartoma |
ORPHA:2754 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Chronic Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Congenital Disorder Of Deglycosylation 2 |
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Hypothalamic hamartoma |
OMIM:619775 |
Acute Disseminated Encephalomyelitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Meningioma |
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Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Orofaciodigital Syndrome Vi |
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Short stature, Hypothalamic hamartoma |
OMIM:277170 |
Aceruloplasminemia |
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Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Tay-Sachs Disease |
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Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami |
OMIM:619306 |
Orofaciodigital Syndrome I |
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Short stature, Hypothalamic hamartoma |
OMIM:311200 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Pallister-Hall Syndrome |
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Short stature, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:672 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Holoprosencephaly 7 |
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Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Williams Syndrome |
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Abnormality of the diencephalon, Short stature |
ORPHA:904 |
Norrie Disease |
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Abnormality of the diencephalon, Delayed puberty |
ORPHA:649 |