Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr... |
ORPHA:2703 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Atypical Teratoid Rhabdoid Tumor |
|
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia |
ORPHA:99966 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Alg13-Cdg |
|
Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy, Decreased body weight |
ORPHA:324422 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a... |
ORPHA:248111 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene... |
OMIM:615889 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Masa Syndrome |
|
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Agenesis of... |
OMIM:303350 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Lissencephaly 4 |
|
Hypertonia, Colpocephaly, Babinski sign, Agenesis of corpus callosum |
OMIM:614019 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal... |
ORPHA:363717 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Gait disturbance |
ORPHA:26 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... |
ORPHA:73256 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... |
ORPHA:401815 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Cere... |
ORPHA:98934 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Band Heterotopia |
|
Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom... |
OMIM:600348 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Brain atrophy, Hydranencephaly, Dandy-Walker ... |
OMIM:617967 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Small for gestational age, Ataxia, Babinski sign, Increase... |
OMIM:619054 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... |
OMIM:203450 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
1Q21.1 Microduplication Syndrome |
|
Hypertonia, Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lac... |
OMIM:616034 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity |
OMIM:615599 |
Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Hydrocephalus, Spastic tetraparesis |
OMIM:619470 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity |
ORPHA:397951 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Neurodegeneration, Decerebrate rigidity, Pro... |
OMIM:245200 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Developmental And Epileptic Encephalopathy 36 |
|
Cerebral atrophy, Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor fun... |
OMIM:300884 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Spastic diplegia, Brain atrophy, Decreased body weight |
OMIM:619420 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Hypertonia, Agenesis... |
OMIM:619302 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia, Impaired pain sensation |
ORPHA:1532 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia |
ORPHA:488635 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus, Small for gestational age |
OMIM:618302 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... |
OMIM:612319 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Spasticity, Ve... |
OMIM:610333 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia |
OMIM:618174 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Spasticity |
OMIM:304100 |
Nasu-Hakola Disease |
|
Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2770 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Lateral ventricle dilatati... |
OMIM:607596 |
Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Gait ataxia, Truncal ataxia, Neuronal loss in central nervous syste... |
ORPHA:85278 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Lateral ventricle dilatation, Atrophy/Degenera... |
ORPHA:77299 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G... |
OMIM:615157 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... |
ORPHA:2182 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum |
OMIM:307000 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... |
OMIM:615491 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity, Cerebral atrophy |
OMIM:616521 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity |
ORPHA:275543 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Obesity |
ORPHA:141333 |
Unilateral Hemispheric Polymicrogyria |
|
Hemiparesis, Lateral ventricle dilatation |
ORPHA:101071 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Spastic tetraplegia |
OMIM:300886 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Huntington Disease |
|
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig... |
ORPHA:399 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebral atrophy |
OMIM:618266 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Obesity |
ORPHA:2183 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... |
OMIM:615643 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation |
OMIM:300982 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia |
OMIM:220220 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly |
ORPHA:858 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Gait ataxia, Increased CSF lactate, Weight loss, Failure to thrive |
OMIM:612075 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance,... |
OMIM:221770 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Spastic paraplegia |
OMIM:615191 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia, Ventriculomegaly |
ORPHA:1933 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
OMIM:601794 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hemiparesis, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum |
OMIM:617542 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Small for gestational age, Cryptorchidism, Hydrocephalus, Gait disturbance, Failu... |
OMIM:609757 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:31 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Agenesi... |
OMIM:207950 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Neurodeg... |
OMIM:214150 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Cerebral cortical atrophy, Spastic tetraparesis |
OMIM:617668 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Colpocephaly, Myoclonus, Br... |
OMIM:620352 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:272 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ventriculomegaly, Ataxia, Atrophy of the spinal cord, Hydrocephalus, Hemip... |
ORPHA:395 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Cach Syndrome |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic diplegia, Limb ataxia, ... |
ORPHA:135 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration, Ventriculomegaly |
OMIM:620210 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... |
OMIM:137440 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Failure to thrive, Cerebral atrophy |
OMIM:269920 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Small for gestational age, Inability to walk, Partial agenesis of the corpus callosum, Ce... |
ORPHA:79243 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypertonia, Spasticity |
OMIM:618890 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Spastic tetraparesis, Cryptorchidism, Hydrocephalus, Obesity, Cerebral atrophy, Hypertonia |
ORPHA:171839 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Small for gestational age, Obesity |
ORPHA:254516 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Hydrocephalus |
OMIM:613155 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spas... |
OMIM:618476 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Cerebral atrophy, Opisthotonus, Choreo... |
OMIM:614969 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl... |
OMIM:619847 |
Hogue-Janssen Syndrome 2 |
|
Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Hemangioblastoma |
|
Dysesthesia, Hydrocephalus |
ORPHA:252054 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Oromotor apraxia, Hemiparesis, Lateral ventricle dilatation, Agenesis of corp... |
ORPHA:300573 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Increased CSF protein co... |
OMIM:272200 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Lateral ventricle dilatation, Hypertonia, My... |
ORPHA:3078 |
Edinburgh Malformation Syndrome |
|
Hypertonia, Hydrocephalus, Failure to thrive |
ORPHA:1895 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v... |
OMIM:617296 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Axonal degeneration, Increased CSF lactate, Subependymal cysts, Neurodegenerat... |
ORPHA:478029 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia |
OMIM:614219 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus |
ORPHA:398189 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Temple Syndrome |
|
Small for gestational age, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Truncal obesity, D... |
OMIM:616222 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Poor fine motor coordination, Lateral ventricle dilatation |
OMIM:618330 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum,... |
OMIM:225790 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Spasticity |
ORPHA:1946 |
Arachnoiditis |
|
Hydrocephalus, Paresthesia |
ORPHA:137817 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Clumsiness |
OMIM:300558 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Hypertonia, Brain atrophy, Failure to thrive, Dandy-Walker malform... |
OMIM:612938 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age, Gait disturbance |
OMIM:613330 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Cryptorchidism, Babinski s... |
ORPHA:565624 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Oculomotor apraxia, Hydrocephalus, Obesity, Ventriculomegaly |
OMIM:615630 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myo... |
ORPHA:284417 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Cerebral atrophy, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... |
ORPHA:391428 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Ataxia, Hydrocephalus, Colpocephaly, Failure to thrive, Ventriculomegaly |
OMIM:619833 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventricle dilatat... |
OMIM:256850 |
Cerebral Visual Impairment |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Central nervous system degeneration, Neurodegeneration... |
ORPHA:447788 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea... |
ORPHA:300605 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,... |
OMIM:618321 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Lower limb hypertonia, Brain atrophy, Failure to thrive, Ventriculomegaly |
ORPHA:2169 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Gait dist... |
ORPHA:488627 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Spasticity |
OMIM:619517 |
Pontocerebellar Hypoplasia, Type 13 |
|
Inability to walk, Gait ataxia, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker mal... |
OMIM:618606 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Ataxia, Poor motor coordination, Tremor, Rigi... |
ORPHA:25 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, Dandy-Walker malfor... |
OMIM:304340 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Inability to walk, Lateral ventricle dilatation, Involuntary movements |
OMIM:615716 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... |
OMIM:616602 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Atrophy of the spinal cord, Obe... |
ORPHA:2822 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis |
ORPHA:98897 |
Halperin-Birk Syndrome |
|
Inability to walk, Spastic tetraplegia, Colpocephaly, Hypertonia, Pseudobulbar paralysis, Failure... |
OMIM:618651 |
Joubert Syndrome 3 |
|
Oculomotor apraxia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia |
OMIM:608629 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... |
ORPHA:3208 |
Tenorio Syndrome |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Cerebral cortical atrophy, Ventricul... |
OMIM:616260 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Dysplastic corpus callosum, Hydrocep... |
OMIM:617281 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Lateral ventricle dilatation, Apraxia, Neuronal loss in central nervous system, Cer... |
OMIM:607485 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Brain at... |
OMIM:610015 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Clonus, Hydrocephalus, Abnormal pyramidal sign... |
ORPHA:370959 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Myoclonus, Cerebral cortical atrophy |
ORPHA:97229 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Agenesis of c... |
ORPHA:220497 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... |
ORPHA:79244 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... |
OMIM:610217 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... |
ORPHA:572798 |
Bilateral Generalized Polymicrogyria |
|
Spastic tetraplegia, Eyelid myoclonus, Lateral ventricle dilatation, Spasticity, Paroxysmal dyski... |
ORPHA:208447 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
B4Galt1-Cdg |
|
Hydrocephalus, Small for gestational age, Dandy-Walker malformation |
ORPHA:79332 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Obesity |
ORPHA:2180 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Failure to thrive, Ventriculomegaly |
OMIM:614576 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Ataxia, Spasticity |
ORPHA:381 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Spasticity, Frequen... |
ORPHA:216866 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... |
ORPHA:268810 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Increased CSF lactate, Neurodegeneration, Spasticity, Neuronal loss in centra... |
OMIM:616239 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Hypertonia, Spastici... |
OMIM:616801 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus, Clumsiness |
OMIM:619320 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Spasticity, Ce... |
ORPHA:702 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive |
OMIM:620157 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia |
ORPHA:475 |
Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Cerebral atrophy, Later... |
OMIM:619487 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Ataxia, Cachexia, Spasticity |
ORPHA:220295 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls, Intention tremor |
OMIM:619995 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... |
ORPHA:616 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Agenesis of c... |
ORPHA:220493 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, Spina bifida occulta,... |
OMIM:618291 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
ORPHA:59315 |
Fatal Familial Insomnia |
|
Neuronal loss in central nervous system, Ataxia, Myoclonus, Weight loss |
OMIM:600072 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... |
ORPHA:97339 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Torticollis, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Failure ... |
OMIM:609029 |
Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Cerebral cortica... |
ORPHA:2836 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait |
OMIM:168605 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Cerebral atrophy, Decreased body weight |
OMIM:614886 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Overweight, Cryptorchidism, Hydrocephalus, Gait disturbance, Dilated third ven... |
ORPHA:500055 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia |
ORPHA:65285 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Gait di... |
OMIM:614298 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... |
OMIM:607459 |
Flynn-Aird Syndrome |
|
Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation |
ORPHA:2047 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Alexander Disease |
|
Ataxia, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Failure to thrive in infancy, Spastic tetraparesis, Inability to walk, Cerebr... |
ORPHA:356961 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Hemiplegia/hemiparesis, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:1647 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Cryptorchidism, Cerebral atrophy, Lateral ventricle dilatation, Dilated ... |
OMIM:619244 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesi... |
OMIM:619895 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Paraparesis, S... |
ORPHA:2356 |
Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Atrophy/Degeneration affecting the ... |
ORPHA:263487 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:2720 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Whipple Disease |
|
Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus |
ORPHA:3452 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Overweight, Tremor, Inability to walk, Obesity, Lateral ventricle ... |
OMIM:619229 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Failure to thrive |
OMIM:602361 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Oculomotor apraxia, Failu... |
OMIM:608091 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity |
ORPHA:803 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Failure to thrive, Facial paralysis |
OMIM:259700 |
Hydrolethalus |
|
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Ataxia |
ORPHA:2318 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Failure to thrive, Ag... |
ORPHA:96170 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
OMIM:612940 |
Rett Syndrome |
|
Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical atrophy |
OMIM:312750 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Increased CSF protein concentration, Paresthesia, Cachexia, Weight loss |
ORPHA:298 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Desmosterolosis |
|
Rigidity, Hydrocephalus, Hypertonia, Spasticity, Failure to thrive, Agenesis of corpus callosum, ... |
ORPHA:35107 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Rhabdoid Tumor |
|
Hemiplegia, Cerebral palsy, Weight loss |
ORPHA:69077 |
Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Failure to thrive, Ventriculo... |
OMIM:602398 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park... |
ORPHA:411602 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Facial paralysis |
OMIM:259710 |
Alkuraya-Kucinskas Syndrome |
|
Oculomotor apraxia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebral atrophy, Hydrocephalus, Spasticity |
OMIM:618590 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Failure to thrive, Weight loss |
OMIM:619377 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia, Opisthotonus, Ankle ... |
ORPHA:206436 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Hemiparesis, Hypertonia, Failure to thrive |
ORPHA:974 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Trisomy 1Q |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:261344 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Partial agenesis of the corpus callosum, Spastic ... |
ORPHA:300570 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum, Decreased body weight |
OMIM:609053 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus, Cerebral cortical atrophy |
OMIM:239300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a... |
OMIM:616878 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
47,Xyy Syndrome |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Xfe Progeroid Syndrome |
|
Cachexia, Poor coordination, Failure to thrive, Ventriculomegaly |
OMIM:610965 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Hypertonia, Cerebral palsy |
OMIM:618914 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia, Cerebral atrophy |
OMIM:616084 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia |
ORPHA:52503 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Brain atrophy, Ventriculomegaly |
OMIM:613603 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Parietal cortical atrophy |
OMIM:620075 |
Fg Syndrome Type 1 |
|
Broad-based gait, Cryptorchidism, Hydrocephalus, Slender build, Ventriculomegaly |
ORPHA:93932 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Large for gestational age, Gait ataxia, Cerebral... |
OMIM:617011 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Rabin-Pappas Syndrome |
|
Hydrocephalus, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... |
ORPHA:899 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Failure to thrive, Cerebral ... |
OMIM:277400 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia |
ORPHA:1454 |
Czeizel-Losonci Syndrome |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida |
ORPHA:2437 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
Mirage Syndrome |
|
Cryptorchidism, Hydrocephalus, Paraplegia, Decreased body weight, Decreased testicular size |
OMIM:617053 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Tetraplegia, Dandy-Walker malformation,... |
OMIM:257300 |
Osteopetrosis, Autosomal Recessive 5 |
|
Clonus, Hydrocephalus, Spastic tetraplegia, Cerebral atrophy, Hypertonia, Ventriculomegaly, Limb ... |
OMIM:259720 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Cerebral cortical atrophy |
ORPHA:1834 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Achondroplasia |
|
Hydrocephalus, Obesity |
ORPHA:15 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:601499 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Cerebral palsy, Poor gross motor coordination |
ORPHA:2148 |
Trisomy 17P |
|
Hydrocephalus, Hypertonia |
ORPHA:261290 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
3C Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:7 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Neurodegeneration |
OMIM:309900 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss |
ORPHA:79242 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hemiparesis |
ORPHA:2409 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Gm1 Gangliosidosis |
|
Ataxia, Tremor, Unsteady gait, Weight loss, Gait disturbance, Decerebrate rigidity, Abnormality o... |
ORPHA:354 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Holoprosencephaly, Agenesis of corpus... |
OMIM:253800 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Chorea, Ventriculomegaly, Spasticity |
ORPHA:1855 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Spasticity, Babinski sign, Cachexia |
OMIM:618186 |
Tetrasomy 5P |
|
Hydrocephalus, Failure to thrive |
ORPHA:3309 |
Wilson Disease |
|
Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive |
ORPHA:905 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia |
ORPHA:3242 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Meningocele, Colpocephaly,... |
ORPHA:397715 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration |
OMIM:146500 |
Distal Deletion 10Q |
|
Ataxia, Clonus, Unsteady gait, Spina bifida occulta, Poor fine motor coordination, Lateral ventri... |
ORPHA:96148 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia |
ORPHA:168577 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive |
OMIM:619575 |
Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Distal Triplication 15Q |
|
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation, Large for gestational age |
ORPHA:314588 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Hydrocephalus, Poor coordination, Choreoathetosis, Failure to thrive, S... |
ORPHA:1600 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2075 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... |
OMIM:614643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613150 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Myoclonus, Weight loss |
OMIM:256700 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss |
ORPHA:93958 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Failure to thrive in infancy, Cryptorchidism, Cerebral atrophy, Lateral ventr... |
OMIM:611209 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Spina bifida, Hydrocephalus, Hydrocele testis, Ankle clonus |
OMIM:613776 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus |
OMIM:619951 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Hydrocephalus, Cerebral cortical atrophy, Distal sensory impairment |
OMIM:616007 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia |
ORPHA:42 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Frequent falls, Normal pressure hydrocephalus |
OMIM:620351 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:264480 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricl... |
ORPHA:544488 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia |
ORPHA:91348 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Atrophy of the spinal cord, Hydrocephalus, Cerebral atrophy, Poor fine motor coordination... |
ORPHA:79282 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus |
ORPHA:1865 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Intention tremor, Ataxia, Overweight, Obesity, Torticollis, Isometric tremor,... |
OMIM:619475 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss |
ORPHA:142 |
Hurler Syndrome |
|
Hydrocephalus, Neurodegeneration |
OMIM:607014 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620113 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Neurodegeneration |
OMIM:253220 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Central nervous system degene... |
ORPHA:581 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Hypertonia, Oculomotor apraxia, Failure to thrive, Cerebral cortical atrophy |
OMIM:115150 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Ataxia, Inability to walk, Cryptorchidism, Colpocephaly, Failure to thrive |
OMIM:620083 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Azoospermi... |
ORPHA:2072 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Large for gestational age, Gait ataxia, Difficulty walking, Slender ... |
ORPHA:457359 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Hyperesthesia, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
ORPHA:250989 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, Leydig cell... |
ORPHA:361 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Absent outer dynein arms |
OMIM:244400 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:612651 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Small for gestational age, Cryptorchidism, Athetosis, Colpocephaly, Failure t... |
OMIM:614866 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Unsteady gait, Ataxia |
ORPHA:457279 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy |
ORPHA:3205 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walking, Spasticity... |
ORPHA:464738 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Brain atrophy, Dandy-Walker malformation |
ORPHA:314585 |
Jacobsen Syndrome |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Spasticity, Failure to thrive |
OMIM:147791 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:1555 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... |
OMIM:236670 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly, Large for gestational age |
ORPHA:77301 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele |
OMIM:130720 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus, Small for gestational age |
OMIM:101800 |
Khan-Khan-Katsanis Syndrome |
|
Hypertonia, Colpocephaly, Failure to thrive, Ventriculomegaly |
OMIM:618460 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive in infancy, Cerebral cortical atrophy |
ORPHA:1340 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Hemiplegia/hemiparesis, Gait disturbance, Weight loss |
ORPHA:183 |
7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Unsteady gait, Obesity, Dysmetria, Ventriculomegaly |
ORPHA:96121 |
Hurler Syndrome |
|
Hydrocephalus, Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis |
ORPHA:93473 |
Weaver Syndrome |
|
Cryptorchidism, Slurred speech, Hydrocele testis, Poor fine motor coordination, Lateral ventricle... |
OMIM:277590 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Lateral ventricle dilatation, Hypertonia, Spast... |
OMIM:618367 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss |
ORPHA:134 |
6Q Terminal Deletion Syndrome |
|
Obesity, Dysmetria, Gait ataxia, Colpocephaly, Failure to thrive |
ORPHA:75857 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Paresthesia |
ORPHA:579 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertonia, Failure to thrive, Dandy-Walker malformation |
OMIM:300960 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation, Limb hypertonia |
ORPHA:401973 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Hypertonia, Decreased ... |
OMIM:602535 |
Kabuki Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity, Failure to thrive, Cerebral cortical atrophy, Ventriculom... |
ORPHA:2322 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Hyperesthesia |
ORPHA:637 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Cachexia, Tremor, Obesity, Decreased testicular size |
ORPHA:85293 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Failure to thrive, Myelomeningocele |
ORPHA:90652 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:157 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cryptorchidism, Lateral ventricle dilatation, Tip-toe gait |
OMIM:617557 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Opisthotonus, Lateral ventricle dilatation, Hypertonia, Failure to thrive |
OMIM:614098 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... |
ORPHA:3385 |
Holoprosencephaly |
|
Encephalocele, Failure to thrive in infancy, Cryptorchidism, Hydrocephalus, Chorea, Spinal dysrap... |
ORPHA:2162 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Bainbridge-Ropers Syndrome |
|
Cryptorchidism, Inability to walk, Lateral ventricle dilatation, Hypertonia, Failure to thrive |
OMIM:615485 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Fail... |
OMIM:619512 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares... |
ORPHA:144 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:217346 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Cerebral atrophy, Normal pressure hydrocephal... |
OMIM:216400 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hydrocephalus, Brain atrophy |
ORPHA:505248 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Familial Colorectal Cancer Type X |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares... |
ORPHA:440437 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Stromme Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:243605 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Agen... |
OMIM:620305 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
Histiocytoid Cardiomyopathy |
|
Hemiplegia, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
ORPHA:137675 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity |
OMIM:305450 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:457284 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Weight loss |
ORPHA:221098 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Failure to thrive, Ventriculomegaly |
ORPHA:2462 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1272 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size |
ORPHA:813 |
Chediak-Higashi Syndrome |
|
Tremor, Ataxia, Gait disturbance, Neurodegeneration |
OMIM:214500 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Cerebellar atrophy, Ataxia, Spastic paraplegia, Clumsiness, Subcorti... |
ORPHA:309282 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Weight loss, Brain atrophy, Difficulty walking |
OMIM:164310 |
Giant Cell Arteritis |
|
Ataxia, Paresthesia, Weight loss |
ORPHA:397 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity |
ORPHA:20 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
H Syndrome |
|
Azoospermia, Hydrocephalus, Decreased testicular size |
ORPHA:168569 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Noonan Syndrome 14 |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:619745 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Weight loss |
ORPHA:465508 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Craniopharyngioma |
|
Hydrocephalus, Obesity |
ORPHA:54595 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Small for gestational age |
OMIM:227646 |
Cockayne Syndrome B |
|
Small for gestational age, Ataxia, Tremor, Cryptorchidism, Cerebral atrophy, Normal pressure hydr... |
OMIM:133540 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ... |
ORPHA:220386 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Hydrocephalus, Obesity, Hemiparesis, D... |
ORPHA:2495 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Primary testicular failure, Abnormal testis morphology, Oligozoospermia |
ORPHA:85450 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clonus, Cryptorchidism, Colpocephaly, Lower limb hypertonia, Oculomotor apraxia |
ORPHA:477993 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Decreased testicular size, Abdominal obesity, Cerebellar cortical atrophy |
OMIM:619321 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Cerebral cortical atrophy, Weight loss |
ORPHA:37 |
Gaucher Disease |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyramidal motor functi... |
ORPHA:355 |
Cryptococcosis |
|
Hydrocephalus, Cerebral cortical atrophy |
ORPHA:1546 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Somatic sensory dysfunction, Weight loss |
ORPHA:370348 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Hydrocephalus, Partial agenesis of ... |
OMIM:270400 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Failure to thrive, Spina bifida occulta, Partial agenesis of the corpus callosum |
OMIM:300373 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build |
OMIM:603041 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age |
OMIM:619869 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Large for gestational age, Lateral ventricle dilatation, Upper limb spasti... |
OMIM:300868 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Riddle Syndrome |
|
Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination |
ORPHA:420741 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Small for gestational age, Testicular neoplasm, Spina bifida, Cryptorchidism, Hyd... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Small for gestational age, Testicular neoplasm, Spina bifida, Cryptorchidism, Hyd... |
ORPHA:363958 |
Trisomy 18 |
|
Spina bifida, Cachexia, Cryptorchidism, Anencephaly, Hypertonia, Holoprosencephaly |
ORPHA:3380 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Orofaciodigital Syndrome I |
|
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:311200 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Cerebr... |
OMIM:615846 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Weight loss |
ORPHA:400 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Small for gestational age, Ataxia, Hydrocephalus, Noncommunicating h... |
ORPHA:666 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Cachexia |
OMIM:175500 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Marden-Walker Syndrome |
|
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
ORPHA:2461 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Hypoglyc... |
ORPHA:228123 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Weight loss, Azoospermia, Abnormal testis morphology... |
ORPHA:84 |
Poems Syndrome |
|
Paresthesia, Hyperesthesia, Weight loss |
ORPHA:2905 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
OMIM:102500 |
Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Torticollis |
ORPHA:536467 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Dubowitz Syndrome |
|
Cryptorchidism, Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Da... |
OMIM:249000 |
Meckel Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619479 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus |
OMIM:253200 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Cockayne Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Cryptorchidism,... |
ORPHA:191 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
Simple Cryoglobulinemia |
|
Paresthesia, Spontaneous pain sensation, Weight loss |
ORPHA:91139 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus c... |
OMIM:618820 |
Holoprosencephaly 9 |
|
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly |
OMIM:610829 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ataxia, Weight loss |
ORPHA:99885 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spastici... |
OMIM:175780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Myoclonus, Ventriculomegaly, Spasticity |
OMIM:253280 |
Costello Syndrome |
|
Cerebral atrophy, Hydrocephalus, Failure to thrive, Ventriculomegaly |
OMIM:218040 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:1106 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Gait disturbance |
ORPHA:3042 |
Aicardi Syndrome |
|
Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... |
OMIM:304050 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Failure to thrive, Myelomeningocele |
OMIM:306955 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:163979 |
Alveolar Echinococcosis |
|
Hemiparesis, Ataxia, Weight loss |
ORPHA:284 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Behçet Disease |
|
Ataxia, Orchitis, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia |
ORPHA:117 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:955 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hydrocephalus |
ORPHA:667 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatat... |
OMIM:210710 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
Wiedemann-Rautenstrauch Syndrome |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Hypertonia, Truncal ataxia, Failure to ... |
OMIM:264090 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2658 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Obesity, Occipital myelomeningocele, Fa... |
ORPHA:567 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Neurofibromatosis Type 1 |
|
Cryptorchidism, Hydrocephalus, Ataxia, Paresthesia |
ORPHA:636 |
Erdheim-Chester Disease |
|
Ataxia, Weight loss |
ORPHA:35687 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Campomelic Dysplasia |
|
Hydrocephalus, Failure to thrive, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Small for gestational age |
OMIM:208150 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia |
ORPHA:95699 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
Schwartz-Jampel Syndrome |
|
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight, Testicular torsion,... |
ORPHA:800 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Weight loss |
ORPHA:49041 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Failure to thrive, Agenesis of corpus c... |
OMIM:194190 |
Split Cord Malformation |
|
Paraparesis, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Cervical spina b... |
ORPHA:573278 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Hydrocephalus, Abnormal testis morphology, Agenesis of corpus callosum |
ORPHA:2556 |
Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:261337 |
Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
Yunis-Varon Syndrome |
|
Cryptorchidism, Hydrocephalus, Severe failure to thrive, Neuronal loss in central nervous system,... |
ORPHA:3472 |
Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Action tremor, Tremor, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypert... |
ORPHA:3455 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:221120 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Fontaine Progeroid Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive, Small for gestational age |
OMIM:612289 |
Oeis Complex |
|
Cryptorchidism, Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Brucellosis |
|
Small for gestational age, Orchitis, Chorea, Weight loss, Failure to thrive |
ORPHA:1304 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Cryptorchidism, Hydrocephalus, Obesity, Lateral ventricle dilatation, Agenesis of corpus callosum... |
OMIM:607872 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Primrose Syndrome |
|
Ataxia, Bilateral cryptorchidism, Cryptorchidism, Truncal obesity, Neurodegeneration, Ventriculom... |
OMIM:259050 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Poor coordination, Limb tremor, Mild fetal ventricul... |
OMIM:619841 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
Fraser Syndrome 1 |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele |
OMIM:219000 |
Addison Disease |
|
Failure to thrive, Primary testicular failure, Weight loss |
ORPHA:85138 |
Multiple Myeloma |
|
Paresthesia, Weight loss |
ORPHA:29073 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Lower limb dysmetria |
ORPHA:363700 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Peters Plus Syndrome |
|
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:709 |
Peters-Plus Syndrome |
|
Cryptorchidism, Hydrocephalus, Cerebral atrophy, Decreased body weight, Agenesis of corpus callos... |
OMIM:261540 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Cerebral atrophy |
OMIM:300896 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Progressi... |
ORPHA:500150 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation... |
OMIM:619534 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Failure to thrive |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Failure to thrive |
ORPHA:353277 |
Kabuki Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Failure to thrive, Hippocampal atrophy, Noncommunicating hydrocephalus |
OMIM:619325 |
Parathyroid Carcinoma |
|
Testicular neoplasm, Weight loss |
ORPHA:143 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
Tetrasomy 9P |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Oligozoospermia |
ORPHA:3310 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Focal Dermal Hypoplasia |
|
Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:305600 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Cerebral atrophy, Weight loss |
OMIM:219800 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:218600 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Slender build, Cachexia |
ORPHA:1328 |
Townes-Brocks Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Small for gestational age, Holoprosencephaly |
OMIM:107480 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Granulomatosis With Polyangiitis |
|
Hemiplegia, Weight loss |
ORPHA:900 |
Postinfectious Vasculitis |
|
Orchitis, Weight loss |
ORPHA:48435 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus |
OMIM:236680 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus |
ORPHA:580 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss |
ORPHA:50918 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss |
ORPHA:90794 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
OMIM:304120 |
Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Hypertonia, Failure to thrive, Cerebral cortical atrophy |
ORPHA:649 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Marfan Syndrome |
|
Meningocele, Slender build, Cachexia |
ORPHA:558 |
Genitopatellar Syndrome |
|
Cryptorchidism, Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
OMIM:312870 |
Sarcoidosis |
|
Increased CSF protein concentration, Abnormal cerebrospinal fluid morphology, Weight loss |
ORPHA:797 |
Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
Stickler Syndrome |
|
Hemiplegia/hemiparesis, Slender build, Cachexia |
ORPHA:828 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Roberts-Sc Phocomelia Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
OMIM:268300 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
Proteus Syndrome |
|
Macroorchidism, Cachexia, Testicular neoplasm |
ORPHA:744 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |