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Gene: Cetn2 MGI:1347085

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

centrin 2

Synonyms:

1110034A02Rik, caltractin

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cetn2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cetn2 (0 diseases)
Human diseases predicted to be associated with Cetn2 (1274 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cetn2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyrrhinia	Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph...	ORPHA:141091
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy, Ventriculomegaly, Dec...	OMIM:617800
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu...	OMIM:609637
Martsolf Syndrome 2	Lateral ventricle dilatation, Decreased body weight, Broad nasal tip	OMIM:619420
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation, Anteverted nares	OMIM:300982
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight	ORPHA:324422
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,...	OMIM:613443
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Porencephaly	Ventriculomegaly	ORPHA:2940
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge	OMIM:614019
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Abnormal neuron morphology	ORPHA:329228
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Bowen-Conradi Syndrome	Cryptorchidism, Ventriculomegaly, Prominent nose	ORPHA:1270
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Decreased CSF glutamine concentration, Wide nasal bridg...	OMIM:610015
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Lateral ventricle dilatation	OMIM:618330
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Alg2-Cdg	Lateral ventricle dilatation, Wide nasal bridge	ORPHA:79326
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Ventriculomegaly	ORPHA:2732
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Wide nasal bridge, Ventriculomegaly	ORPHA:3207
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Wide nasal bridge, Short nose, Broad nasal tip	OMIM:615716
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Depressed nasal bridge, Failure to thrive in infancy	ORPHA:284417
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell	OMIM:146110
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Recurrent upper respiratory tract infections...	ORPHA:3078
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent upper respiratory tract infections, Obesity, Ventriculomegaly	OMIM:300209
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Macrocephaly, Acquired, With Impaired Intellectual Development	Narrow nasal bridge, Unilateral cryptorchidism, Anteverted nares, Agenesis of corpus callosum, Ve...	OMIM:618286
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Wide nasal bridge	OMIM:614870
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric...	OMIM:619995
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Cryptorchidism, Anosmia, Obesity, Hyposmia, Decreased testicular size	OMIM:610628
Microcephaly 17, Primary, Autosomal Recessive	Bulbous nose, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617090
Congenital Hydrocephalus	Bulbous nose, Hydrocephalus, Optic atrophy, Colpocephaly, Ventriculomegaly	ORPHA:2185
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Ventriculomegaly	OMIM:615763
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Failure to thrive, Anteverted nares, Dandy-Walker malformation	OMIM:618606
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age, Wide nasal bridge	OMIM:618302
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly	OMIM:620106
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Adams-Oliver Syndrome 2	Depressed nasal bridge, Bulbous nose, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation	OMIM:614219
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia, Azoospermia, Decreased motor nerve conduction velocity	OMIM:613724
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge	OMIM:608629
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera...	ORPHA:79243
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Ventriculomegaly	ORPHA:1084
Polymicrogyria, Bilateral Temporooccipital	Ventriculomegaly	OMIM:612691
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Ventriculomegaly	OMIM:618677
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Anteverted nares, Prominent nasal bridge, Lateral ventricle dilatation,...	OMIM:617751
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Optic atrophy, Anteverted nares	OMIM:300884
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide nasal base, Wide nasal bridge, Obesity	OMIM:616521
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Bulbous nose, Lateral ventricle dilatation, Short nose	OMIM:614105
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive	ORPHA:250994
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Malan Overgrowth Syndrome	Optic disc pallor, Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly	ORPHA:420179
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia, Obesity	OMIM:617885
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Bifid nose, Decreased testicular size	OMIM:614838
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge	ORPHA:488635
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614858
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Gómez-López-Hernández Syndrome	Hydrocephalus, Anteverted nares	ORPHA:1532
Pulmonary Blastoma	Weight loss	ORPHA:64741
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis of corpus...	ORPHA:2189
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Lateral ventricle dilatation	OMIM:607596
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Bardet-Biedl Syndrome 19	Hyposmia, Obesity	OMIM:615996
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:612370
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Ventriculomegaly	ORPHA:1568
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Ventriculomegaly	OMIM:619323
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:171703
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat...	ORPHA:293725
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Huntington Disease	Weight loss, Decreased body mass index, Abnormality of the sense of smell	ORPHA:399
Lissencephaly 1	Ventriculomegaly	OMIM:607432
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis of corpu...	OMIM:618577
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge	ORPHA:83473
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:612702
Yoon-Bellen Neurodevelopmental Syndrome	Failure to thrive, Optic atrophy, Ventriculomegaly	OMIM:619701
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Depressed nasal bridge, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:615286
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation	OMIM:221770
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Musk, Inability To Smell	Anosmia	OMIM:254150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Prominent nose, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis o...	OMIM:619244
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:500166
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly	OMIM:613402
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Cryptorchidism, Anosmia, Hyposmia, Agenesis of corpus callosum	OMIM:147950
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis	OMIM:244400
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Mulibrey Nanism	Wide nasal bridge, Cachexia	ORPHA:2576
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Mehmo Syndrome	Small for gestational age, Broad nasal tip, Obesity, Depressed nasal tip, Ventriculomegaly	OMIM:300148
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Temple Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Small for gestational age, Overweight, Crypt...	OMIM:616222
Tuberculosis	Weight loss	ORPHA:3389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Facial palsy	OMIM:256850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly	OMIM:616486
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Depressed nasal bridge	OMIM:620075
Spastic Paraplegia 47, Autosomal Recessive	Overweight, Bulbous nose, Wide nasal bridge, Ventriculomegaly	OMIM:614066
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Choanal atresia	OMIM:612247
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Ventriculomegaly	OMIM:618730
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ventriculomegaly	OMIM:613925
Hyperostosis Cranialis Interna	Hyposmia, Optic atrophy, Anosmia, Facial palsy	OMIM:144755
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Ventriculomegaly	OMIM:300699
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly	OMIM:618383
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Hydrocephalus, Short nose, Failure to thrive	ORPHA:1895
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, Decreased ...	OMIM:308700
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, ...	ORPHA:255182
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Dandy-Walker ...	OMIM:220220
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:244200
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly	ORPHA:1261
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata...	OMIM:617296
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Orofaciodigital Syndrome Xv	Anteverted nares, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly	OMIM:617127
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose, Wide nasal...	ORPHA:2180
17P13.3 Microduplication Syndrome	Wide nose, Short nose, Ventriculomegaly	ORPHA:217385
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614880
Peho-Like Syndrome	Short nose, Optic atrophy, Ventriculomegaly	OMIM:617507
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Wide nasal bridge, Ventriculomegaly, Prominent nose	ORPHA:137831
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentra...	OMIM:616034
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Ventriculomegaly	OMIM:618251
Bainbridge-Ropers Syndrome	Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Cryptorchidism, Anosmia, Testicular atrophy	OMIM:308750
Cach Syndrome	Lateral ventricle dilatation, Optic atrophy	ORPHA:135
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Optic atrophy	OMIM:619470
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Johnson Neuroectodermal Syndrome	Facial palsy, Choanal atresia, Bulbous nose, Anosmia, Failure to thrive	ORPHA:2316
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Ventriculomegaly	ORPHA:319199
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Ventriculomegaly	OMIM:620314
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Prominent nasal bridge, Wide nasal bridge, Ventriculomegaly	OMIM:619556
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Broad nasal tip, Cryptorchidism, Hydrocephalus, Failure to thrive, Ven...	OMIM:609757
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated th...	OMIM:613154
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Peroxisome Biogenesis Disorder 9B	Anosmia, Total anosmia	OMIM:614879
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:1516
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus	OMIM:619302
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Depressed nasal bridge, Ventriculomegaly	OMIM:602501
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Catel-Manzke Syndrome	Failure to thrive, Ventriculomegaly	ORPHA:1388
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge, Frontalis muscle weakness	OMIM:210745
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Small for gestational age, Flared nostrils, Wide nasal bridge, Increased CSF la...	OMIM:312170
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size	OMIM:614897
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul...	ORPHA:488627
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive, Anteverted nares	OMIM:269920
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Dandy-Walker malformation, Hydrocephalus, Short nose, Thick nasal alae, Ventriculomegaly	ORPHA:163961
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Bulbous nose, Wide nasal bridge, Decreased body weight, Ventriculomegaly	OMIM:300958
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia, Abnormal cranial nerve morphology	ORPHA:2057
Distal Deletion 10Q	Prominent nasal bridge, Prominent nose, Spina bifida occulta, Wide nasal bridge, Facial diplegia,...	ORPHA:96148
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Anteverted nares, Lateral ventricle dilatation	OMIM:612863
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Choanal atresia, Depressed nasal bridge, Hydrocephalus, Myelomeningocele, Optic...	ORPHA:1914
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Depressed nasal bridge, Me...	ORPHA:397715
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Lateral ventricle dilatation, Small for gestational age	OMIM:619847
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge	ORPHA:380
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:85179
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, La...	ORPHA:544488
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Obesity, Short columella...	ORPHA:171839
Congenital Toxoplasmosis	Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly	ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base, Failure to thrive,...	OMIM:617788
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Ventriculomegaly	OMIM:616570
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Multiple Mitochondrial Dysfunctions Syndrome 5	Ventriculomegaly	OMIM:617613
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Agenesis of corpus ca...	ORPHA:1528
Congenital Disorder Of Glycosylation, Type Iig	Anteverted nares, Failure to thrive in infancy, Cryptorchidism, Wide nasal bridge, Lateral ventri...	OMIM:611209
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Obesity	ORPHA:2183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Abnormal autonomic nervous system physiology, Anosmia, Abnormal nerve conduction velocity	OMIM:243000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Depressed nasal bridge, Overweight, Hydrocephalus, Lateral ventricle dilatatio...	OMIM:619575
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly	ORPHA:1980
Juvenile Huntington Disease	Ventriculomegaly, Weight loss	ORPHA:248111
Idiopathic Achalasia	Weight loss	ORPHA:930
Trisomy 5P	Obesity, Ventriculomegaly	ORPHA:1742
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Optic atrophy, Ventriculomegaly	ORPHA:1495
Microcephaly 5, Primary, Autosomal Recessive	Agenesis of corpus callosum, Ventriculomegaly	OMIM:608716
Fried Syndrome	Hydrocephalus	ORPHA:85335
Slc35A2-Cdg	Lateral ventricle dilatation, Failure to thrive in infancy, Dandy-Walker malformation	ORPHA:356961
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Anteverted nares, Prominent nasal bridge, Short nose	OMIM:300558
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Increased CSF protein concentration, Ventriculomegaly	OMIM:611722
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Ventriculomegaly	OMIM:616540
Christianson Syndrome	Cachexia, Ventriculomegaly, Abnormality of the nose	ORPHA:85278
6Q25 Microdeletion Syndrome	Failure to thrive, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly	ORPHA:251056
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Intellectual Developmental Disorder, Autosomal Dominant 70	Optic nerve hypoplasia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Failure to thrive, Low...	OMIM:620157
Cog5-Cdg	Cryptorchidism, Lateral ventricle dilatation, Wide nasal bridge, Prominent nose	ORPHA:263487
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Anosmia	OMIM:618841
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Wide nasal bridge, Ventriculomegaly	ORPHA:572798
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Ventriculomegaly	OMIM:620200
Congenital Disorder Of Glycosylation, Type Iih	Depressed nasal bridge, Failure to thrive in infancy, Ventriculomegaly	OMIM:611182
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Increased CSF lactate, La...	ORPHA:565624
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Bardet-Biedl Syndrome 17	Hyposmia, Anosmia, Obesity	OMIM:615994
Krabbe Disease	Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Failure to thrive, Increased C...	OMIM:245200
Pierpont Syndrome	Cryptorchidism, Small for gestational age, Wide nasal ridge, Ventriculomegaly	ORPHA:487825
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Cryptorchidism, Anosmia, Obesity, Agenesis of corp...	ORPHA:3157
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Hydrocephalus, Optic atrophy, Failure to thrive, Ventriculomegaly	ORPHA:60040
Lissencephaly 3	Agenesis of corpus callosum, Ventriculomegaly	OMIM:611603
Noonan Syndrome 14	Cryptorchidism, Lateral ventricle dilatation, Prominent nasolabial fold, Prominent nasal bridge	OMIM:619745
Refsum Disease, Classic	Increased CSF protein concentration, Anosmia	OMIM:266500
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly	OMIM:617904
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Cryptorchidism, Azoospermia, Anosmia, Decreased testicular size	OMIM:614837
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Optic nerve hypoplasia, Ventriculomegaly	ORPHA:228384
Orofaciodigital Syndrome Xvii	Decreased body weight, Ventriculomegaly, Prominent nose	OMIM:617926
Intellectual Developmental Disorder, Autosomal Recessive 46	Ventriculomegaly, Large for gestational age	OMIM:616116
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:616030
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Campomelic Dysplasia	Depressed nasal bridge, Ventriculomegaly, Abnormality of the sense of smell	ORPHA:140
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Ventriculomegaly	ORPHA:85277
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Increased CSF lactate, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Depressed nasal bridge	OMIM:619955
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia	OMIM:601152
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Bulbous nose, Depressed nasal bridge, Anteverted nares, Ventriculomegaly	OMIM:617268
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Small for gestational age, Lateral ventricle dilatat...	OMIM:619869
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
49,Xxxyy Syndrome	Eunuchoid habitus, Abnormality of the testis size, Recurrent upper respiratory tract infections, ...	ORPHA:261534
Temple Syndrome	Cryptorchidism, Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Ventriculomegaly	ORPHA:521390
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity	OMIM:601794
Familial Scaphocephaly Syndrome, Mcgillivray Type	Ventriculomegaly	ORPHA:168624
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Hydrocephalus, Optic atrophy, Colpocephaly, Short nose, Failure to thrive...	OMIM:619833
Macdermot-Winter Syndrome	Ventriculomegaly	OMIM:247990
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614841
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormality of the Leydig cells, Abnormality of the sense...	OMIM:228300
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Underdeveloped nasal alae, Lateral ventricle dilatation, Narrow naris, Failu...	OMIM:614098
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Anteverted nares	OMIM:618731
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, CSF pleocytosis, Decreased sensory nerve conduction ve...	OMIM:603472
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Wide nasal bridge, Dandy-Walker malformation	ORPHA:79332
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Failure to thrive, Optic atrophy, Weight loss	OMIM:619487
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Ventriculomegaly	OMIM:619229
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Choanal atresia, Convex nasal ridge	ORPHA:93262
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly	OMIM:615760
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Ventriculomegaly	OMIM:618298
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Cryptorchidism...	OMIM:300882
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus, Anteverted nares, Short nose	ORPHA:2701
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Short nose	ORPHA:457279
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy	OMIM:618174
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydroce...	ORPHA:85284
Intellectual Developmental Disorder, Autosomal Recessive 41	Ventriculomegaly, Broad nasal tip	OMIM:615637
Kleine-Levin Syndrome	Parosmia	ORPHA:33543
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Prominent nasal bridge, Ventriculomegaly	OMIM:618974
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Abnormal sperm morphology...	ORPHA:52901
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly	ORPHA:261295
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ventriculomegaly	ORPHA:1188
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Anteverted nares, Ventriculomegaly	OMIM:616362
Superficial Siderosis	Enlarged sylvian cistern, Partial anosmia, Abnormal cerebrospinal fluid morphology, Anosmia, Abno...	ORPHA:247245
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, No...	ORPHA:300570
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Failure to thrive, Optic atrophy, Ventriculomegaly	OMIM:618228
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Depressed nasal bridge, Short nose	OMIM:241800
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Obesity, Lateral ventricl...	ORPHA:177907
Metatropic Dysplasia	Hydrocephalus, Depressed nasal bridge	ORPHA:2635
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Wide nasal bridge, Ventriculomegaly	OMIM:611087
Mcdonough Syndrome	Cryptorchidism, Underdeveloped nasal alae, Cachexia, Prominent nose	ORPHA:2471
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia, Ventriculomegaly	ORPHA:1933
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly	OMIM:619479
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum, Wide nasal bridge, Depressed nasal bridge	ORPHA:1692
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Optic atrophy, Colpocephaly, Agenesis o...	OMIM:615219
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:272
Holoprosencephaly	Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Failure ...	ORPHA:2162
Basel-Vanagaite-Smirin-Yosef Syndrome	Anteverted nares, Lateral ventricle dilatation, Prominent nasal tip, Dilated third ventricle, Age...	ORPHA:464738
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose	ORPHA:2184
Intellectual Developmental Disorder, X-Linked 111	Ventriculomegaly	OMIM:301107
Weaver Syndrome	Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Ventricul...	OMIM:277590
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly	OMIM:617391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Ventriculomegaly	OMIM:613151
Histidinuria-Renal Tubular Defect Syndrome	Wide nasal bridge, Ventriculomegaly	ORPHA:2158
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Abnormality of the sense of smell	OMIM:616113
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Anteverted nares, Wide nasal bridge, Ventriculomegaly, Decreased body weight	OMIM:618342
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Ventriculomegaly, Prominent nose	OMIM:619527
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size	ORPHA:649929
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Weiss-Kruszka Syndrome	Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Chronic Hiccup	Weight loss	ORPHA:396
Lissencephaly, X-Linked, 2	Prominent nasal bridge, Wide nasal bridge, Agenesis of corpus callosum, Decreased testicular size...	OMIM:300215
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Lateral ventricle dilatation, Obesity, Orthostatic hypotension	ORPHA:2822
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Failure to thrive, Ventr...	OMIM:616430
Microcephaly-Cardiomyopathy Syndrome	Ventriculomegaly	ORPHA:2515
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ventriculomegaly	OMIM:206570
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Choanal atresia, Convex nasal ridge	ORPHA:207
Thanatophoric Dysplasia	Hydrocephalus, Depressed nasal bridge, Ventriculomegaly	ORPHA:2655
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Short nose, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613735
Cornelia De Lange Syndrome 2	Anteverted nares, Prominent nasal bridge, Ventriculomegaly	OMIM:300590
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Depressed nasal ridge, Short nose	OMIM:300863
Kufor-Rakeb Syndrome	Hyposmia, Anosmia	OMIM:606693
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly	OMIM:617977
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Congenital Muscular Dystrophy Without Intellectual Disability	Facial diplegia, Ventriculomegaly	ORPHA:370980
Lissencephaly 6 With Microcephaly	Bulbous nose, Partial agenesis of the corpus callosum, Anteverted nares, Ventriculomegaly	OMIM:616212
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Cachexia	ORPHA:1389
Spastic Paraplegia 50, Autosomal Recessive	Optic disc pallor, Bulbous nose, Wide nasal ridge, Ventriculomegaly	OMIM:612936
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618603
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge	ORPHA:1237
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Extra-axial cerebrospinal ...	OMIM:619179
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Wide nasal bridge...	OMIM:218000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
8Q21.11 Microdeletion Syndrome	Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell	ORPHA:284160
Gabriele-De Vries Syndrome	Cryptorchidism, Lateral ventricle dilatation, Broad nasal tip	OMIM:617557
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Prominent nasal bridge, Prominent nose, Cryptorchidism, Failure to thr...	OMIM:214150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Optic disc pallor, Ventriculomegaly	OMIM:613730
Isaacs Syndrome	Weight loss	ORPHA:84142
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Aicardi Syndrome	Anteverted nares, Spina bifida, Partial agenesis of the corpus callosum, Optic disc coloboma, Cho...	OMIM:304050
Congenital Neuronal Ceroid Lipofuscinosis	Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly	ORPHA:168486
Microhydranencephaly	Hydranencephaly, Agenesis of corpus callosum, Prominent nasal bridge, Ventriculomegaly	OMIM:605013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Facial palsy	OMIM:613155
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Depressed nasal ridge	ORPHA:1861
Pfapa Syndrome	Recurrent pharyngitis, Weight loss	ORPHA:42642
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Extra-axial c...	OMIM:616900
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Depressed nasal bridge, Cryptorchidism, Bulbous nose, Abdominal obesity, Decreased testicular siz...	OMIM:300354
Skraban-Deardorff Syndrome	Depressed nasal bridge, Anteverted nares, Ventriculomegaly	OMIM:617616
Hereditary Late-Onset Parkinson Disease	Hyposmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly	OMIM:617051
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight, Wide nasal bridge, Prominent nose	OMIM:614886
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Ventriculomegaly	OMIM:616531
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Optic atrophy, Short nose, Failure to thrive, Ventriculomegaly	ORPHA:561
Huntington Disease-Like 1	Ventriculomegaly, Weight loss	ORPHA:157941
Congenital Disorder Of Glycosylation, Type Ii	Wide nasal bridge, Ventriculomegaly, Decreased body weight	OMIM:607906
Cutis Laxa, Autosomal Recessive, Type Iib	Narrow nasal ridge, Bulbous nose, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Kallmann Syndrome	Cryptorchidism, Anosmia, Obesity, Hyposmia, Decreased testicular size	ORPHA:478
Leukoencephalopathy, Cystic, Without Megalencephaly	Ventriculomegaly	OMIM:612951
Brain Small Vessel Disease 2	Ventriculomegaly	OMIM:614483
Sandestig-Stefanova Syndrome	Convex nasal ridge, Small for gestational age, Wide nasal bridge, Ventriculomegaly	OMIM:618804
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Ventriculo...	OMIM:300957
Rabin-Pappas Syndrome	Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Hydrocephalus, Obesity, Wi...	OMIM:620155
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Optic atrophy	ORPHA:99947
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Facial palsy, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Obesity, Trun...	OMIM:615873
Rhombencephalosynapsis	Septo-optic dysplasia, Anteverted nares, Aganglionic megacolon, Hydrocephalus, Short nose, Ventri...	ORPHA:59315
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Anteverted nares, Prominent nasal bridge, Cachexia, Prominent nose, Failure to thrive in infancy,...	OMIM:616801
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly	OMIM:300088
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal nasal morphology, Truncal obesity, Ventriculomegaly	ORPHA:3224
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly	OMIM:619180
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
3-Hydroxyisobutyric Aciduria	Ventriculomegaly	ORPHA:939
Pettigrew Syndrome	Prominent nose, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Ven...	OMIM:304340
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hol...	ORPHA:1908
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation	OMIM:612301
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Partial agenesis of the corpus callosum, Hydrocephalu...	OMIM:602398
Baraitser-Winter Syndrome 1	Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Failure to thrive, Agenesis of c...	OMIM:243310
Refsum Disease	Anosmia	ORPHA:773
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
49,Xyyyy Syndrome	Eunuchoid habitus, Abnormality of the testis size, Recurrent upper respiratory tract infections, ...	ORPHA:99330
Bone Dysplasia, Lethal Holmgren Type	Anteverted nares, Failure to thrive, Depressed nasal ridge, Weight loss	ORPHA:1842
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Decreased body weight, Failure to thri...	OMIM:617452
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Optic atrophy, Short nose, Failure to thrive, Ventriculomegaly	OMIM:615851
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Obesity, Ventriculomegaly	OMIM:615630
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly	OMIM:203740
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Maternal Uniparental Disomy Of Chromosome 1	Failure to thrive, Ventriculomegaly	ORPHA:251009
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Depressed nasal ridge, Short nose	ORPHA:163966
Achondroplasia	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Obesity, Short nasal bridge	ORPHA:15
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo...	OMIM:217090
Intellectual Developmental Disorder, Autosomal Dominant 65	Anteverted nares, Bulbous nose, Wide nasal bridge, Noncommunicating hydrocephalus, Agenesis of co...	OMIM:619320
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age	OMIM:613330
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size,...	OMIM:615433
Emanuel Syndrome	Failure to thrive, Cryptorchidism, Hydrocephalus, Recurrent sinusitis, Dandy-Walker malformation,...	OMIM:609029
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Anteverted nares, Bulbous nose, Optic atrophy, Unilateral facial palsy, Ventriculomegaly	OMIM:618547
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly	OMIM:253250
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly	ORPHA:2172
Spastic Paraplegia 51, Autosomal Recessive	Long nose, Overweight, Bulbous nose, Wide nasal bridge, Ventriculomegaly	OMIM:613744
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation	OMIM:220210
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose	OMIM:101600
Autosomal Recessive Primary Microcephaly	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Short nose, Ventriculomegaly	ORPHA:2083
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Developmental And Epileptic Encephalopathy 49	Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Optic atrophy, Dandy-Walker malformati...	OMIM:617281
Erythrokeratodermia Variabilis	Abnormal testis morphology, Weight loss	ORPHA:317
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Anteverted nares, Depressed nasal bridge, Large for gestational age	OMIM:300868
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Wide nose, Prominent nasal bridge, Cryptorchidism, Decreased body weight, Failure to thrive, Vent...	ORPHA:505237
Laurin-Sandrow Syndrome	Underdeveloped nasal alae, Prominent nose, Abnormality of the nose, Hydrocephalus, Cryptorchidism...	ORPHA:2378
Roifman-Chitayat Syndrome	Optic atrophy, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly	OMIM:613328
Holoprosencephaly 14	Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Par...	OMIM:619895
Trisomy 1Q	Wide nose, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ve...	ORPHA:261344
Lissencephaly 8	Occipital encephalocele, Optic atrophy, Ventriculomegaly	OMIM:617255
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic a...	ORPHA:370959
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Ventriculomegaly	OMIM:611555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Joubert Syndrome 31	Ventriculomegaly	OMIM:617761
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Ventriculomegaly	OMIM:618241
Developmental And Epileptic Encephalopathy 64	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Low insertion of columella, Ventriculo...	OMIM:618004
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Short nose, Ventriculomegaly	ORPHA:284169
Smith-Kingsmore Syndrome	Depressed nasal bridge, Large for gestational age, Cryptorchidism, Short nose, Ventriculomegaly	OMIM:616638
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Hydrocephalus, Anteverted nares, Ventriculomegaly	OMIM:272200
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Acromelic Frontonasal Dysplasia	Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, Choroid plexus cyst...	ORPHA:1827
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Optic atrophy, Wide nasal bridge, Extra-axial cerebrospina...	OMIM:619383
Huntington Disease-Like 2	Weight loss	OMIM:606438
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Basilicata-Akhtar Syndrome	Anteverted nares, Choanal stenosis, Wide nasal ridge, Ventriculomegaly	OMIM:301032
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Depressed nasal bridge, Anteverted nares, Ventriculomegaly	OMIM:179613
Tenorio Syndrome	Wide nose, Hydrocephalus, Anteverted nares, Ventriculomegaly	OMIM:616260
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Small for gestational age, Cryptorchidism, H...	OMIM:257300
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Ventriculomegaly	OMIM:619851
Tetrasomy 5P	Anteverted nares, Hydrocephalus, Wide nasal bridge, Short nose, Failure to thrive	ORPHA:3309
Renpenning Syndrome	Decreased testicular size, Broad columella, Cachexia, Prominent nose	ORPHA:3242
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short nose, Dandy-Walker malformation, V...	OMIM:617822
Luscan-Lumish Syndrome	Long nose, Obesity, Ventriculomegaly	OMIM:616831
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Young-Onset Parkinson Disease	Hyposmia, Abnormal autonomic nervous system physiology	ORPHA:2828
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Aganglionic megacolon, Optic nerve hypoplasia, Dysplastic corpus callos...	ORPHA:171680
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Bulbous nose, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Agenesis of corpus callosu...	OMIM:618476
Peho Syndrome	Anteverted nares, Hydrocephalus, Optic atrophy, Short nose, Ventriculomegaly	ORPHA:2836
Smith-Magenis Syndrome	Increased body weight, Wide nasal bridge, Ventriculomegaly	OMIM:182290
Desmosterolosis	Depressed nasal bridge, Abnormality of the nose, Hydrocephalus, Short nose, Failure to thrive, Ag...	ORPHA:35107
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Cryptorchidism, Failure to thrive, Ventriculomegaly	ORPHA:88639
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Convex nasal ridge, Cachexia, Weight loss	ORPHA:1979
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Wide nasal bridge, Ventriculomegaly	ORPHA:66629
Meningioma	Papilledema, Facial palsy, Hydrocephalus, Obesity, Abnormality of the sense of smell	ORPHA:2495
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238750
Halperin-Birk Syndrome	Optic atrophy, Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Se...	OMIM:618651
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Cranial nerve compression, Optic atrophy, Chronic rhinitis due to narrow nasal air...	OMIM:259710
Joubert Syndrome With Renal Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hydrocephalus, Ag...	ORPHA:220497
Multiple Sulfatase Deficiency	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Optic atrophy, Abnormality of peripheral...	ORPHA:585
Pontocerebellar Hypoplasia, Type 7	Broad nasal tip, Cryptorchidism, Hydrocephalus, Optic atrophy, Wide nasal bridge, Ventriculomegaly	OMIM:614969
Moynahan Syndrome	Cachexia	ORPHA:2574
Primary Ciliary Dyskinesia	Nasal polyposis, Hydrocephalus, Nasal congestion, Chronic rhinitis, Ventriculomegaly	ORPHA:244
Kohlschutter-Tonz Syndrome	Ventriculomegaly	OMIM:226750
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia	ORPHA:2250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Anteverted nares, Prominent nose, Cryptorchidism, Partial agenesis of the corpus callosum, Hydroc...	OMIM:210710
Narp Syndrome	Optic disc pallor, Ventriculomegaly	ORPHA:644
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Ventriculomegaly	ORPHA:206559
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Failure to thrive, Optic atrophy, Ventriculomegaly	OMIM:614576
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Agenesis of corpus callosum, V...	ORPHA:1812
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares	ORPHA:1064
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr...	OMIM:142945
Kallmann Syndrome-Heart Disease Syndrome	Bilateral cryptorchidism, Decreased testicular size, Partial anosmia, Total anosmia	ORPHA:2326
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
3C Syndrome	Depressed nasal bridge, Hydrocephalus, Optic atrophy, Wide nasal bridge, Short nose, Dandy-Walker...	ORPHA:7
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Failure to thrive, Ventriculomegaly	ORPHA:500533
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Low hanging columella, Underdeveloped nasal alae, Ventriculomegaly, Broad nasal tip	ORPHA:404473
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Ventriculomegaly	OMIM:613638
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:2169
Emanuel Syndrome	Failure to thrive, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus c...	ORPHA:96170
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Short nose, Ventriculomegaly	ORPHA:2031
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Xfe Progeroid Syndrome	Cachexia, Optic atrophy, Failure to thrive, Convex nasal ridge, Ventriculomegaly	OMIM:610965
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Joubert Syndrome 14	Encephalocele, Prominent nasal bridge, Hydrocephalus, Meningocele, Optic atrophy, Dandy-Walker ma...	OMIM:614424
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Wide nasal bridge, Cachexia	ORPHA:1438
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Failure to thrive, Anteverted nares, Ventriculomegaly	OMIM:251290
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Hydrocephalus, Optic dis...	OMIM:608091
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Abnormal autonomic nervous system physiology, Abnormal...	ORPHA:97229
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Prominent nasal bridge, Cryptorchidism, Ventriculomegaly, Low hanging columella	ORPHA:500159
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus	ORPHA:2318
Developmental And Epileptic Encephalopathy 65	Ventriculomegaly	OMIM:618008
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Small for gestational age, Ventriculomegaly, Increased CSF lactate	OMIM:618253
Thanatophoric Dysplasia Type 1	Hydrocephalus, Depressed nasal bridge, Ventriculomegaly	ORPHA:1860
Tetrasomy 12P	Short nose, Anteverted nares, Cachexia	ORPHA:884
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation, Short columella, Anteverted nares, Depressed nasal bridge	OMIM:181270
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Short...	OMIM:613603
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infe...	ORPHA:314389
8P11.2 Deletion Syndrome	Cryptorchidism, Anosmia, Azoospermia, Depressed nasal bridge	ORPHA:251066
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Intellectual Developmental Disorder, Autosomal Dominant 64	Bulbous nose, Depressed nasal bridge, Anteverted nares, Ventriculomegaly	OMIM:619188
Osteopetrosis, Autosomal Recessive 1	Facial palsy, Hydrocephalus, Optic atrophy, Facial paralysis, Failure to thrive	OMIM:259700
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Decreased body weight	OMIM:609053
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Ventriculomegaly, Decreased body weight	ORPHA:255138
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Cachexia, Weight loss, Decreased sensory nerve conduct...	ORPHA:298
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Facial palsy, Dandy-Walker malformation	OMIM:310400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Anteverted nares, Wide nasal bridge, Short nose, Ventriculomegaly	OMIM:616897
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly	OMIM:618273
Lowry-Maclean Syndrome	Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Short nose, Short nasal bridge, Convex ...	ORPHA:2409
Microcephalic Primordial Dwarfism, Toriello Type	Ventriculomegaly	ORPHA:2643
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus	ORPHA:475
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Joubert Syndrome With Ocular Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hydrocephalus, Ag...	ORPHA:220493
Fg Syndrome Type 1	Choanal atresia, Optic nerve hypoplasia, Prominent nose, Cryptorchidism, Hydrocephalus, Slender b...	ORPHA:93932
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Wide nasal bridge	OMIM:601499
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Ventriculomegaly, Increased CSF lactate	OMIM:619059
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose	ORPHA:93259
Moebius Syndrome	Facial palsy, Abnormality of the sense of smell	ORPHA:570
Temtamy Syndrome	Agenesis of corpus callosum, Convex nasal ridge, Ventriculomegaly	OMIM:218340
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Anteverted nares, Prominent nasal bridge, Cachexia, Wide nasal bridge, Severe failure to thrive, ...	ORPHA:371364
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Depressed nasal bridge, Ventriculomegaly, Large for gestational age	ORPHA:457485
Joubert Syndrome 30	Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Beare-Stevenson Cutis Gyrata Syndrome	Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge, Hydrocephalus,...	OMIM:123790
Cadds	Short nose, Ventriculomegaly	ORPHA:369942
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Opti...	ORPHA:3301
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpu...	OMIM:620113
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Dilated third ventricle, Hydrocephalus, Cryptorchidism, Failure to thrive, Ventriculo...	ORPHA:500055
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Ventriculomegaly, Prominent nose	OMIM:618205
Tatton-Brown-Rahman Syndrome	Short columella, Anteverted nares, Optic nerve hypoplasia, Ventriculomegaly	OMIM:615879
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventriculomegaly	ORPHA:2772
Trisomy 17P	Wide nose, Hydrocephalus, Thick nasal alae, Prominent nose	ORPHA:261290
Oromandibular Dystonia	Weight loss, Abnormality of the nose	ORPHA:93958
Albers-Schönberg Osteopetrosis	Hydrocephalus, Optic atrophy, Facial palsy	ORPHA:53
Pyruvate Dehydrogenase Deficiency	Wide nasal bridge, Ventriculomegaly	ORPHA:765
Seckel Syndrome 9	Small for gestational age, Convex nasal ridge, Ventriculomegaly	OMIM:616777
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpus c...	ORPHA:500150
Leishmaniasis	Rhinitis, Weight loss	ORPHA:507
Stromme Syndrome	Prominent nasal bridge, Optic nerve hypoplasia, Hydrocephalus, Wide nasal bridge, Short columella...	OMIM:243605
Smith-Magenis Syndrome	Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Wide nasal bridge, Obesit...	ORPHA:819
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Cryptorchidism, Obesity, Short nose, Failure to thrive, Agenesis of corpus call...	ORPHA:96147
Follicular Lymphoma	Weight loss	ORPHA:545
Rahman Syndrome	Cryptorchidism, Ventriculomegaly	OMIM:617537
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wide nasal bridge, Cachexia	ORPHA:2774
Dpm1-Cdg	Optic atrophy, Failure to thrive, Depressed nasal bridge, Ventriculomegaly	ORPHA:79322
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Bulbous nose, Optic atrophy, Wide nasal bridge, Dandy-Walker malformation, Vent...	OMIM:220500
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Cryptorchidism, Colpocephaly, Ventriculomegaly	ORPHA:261250
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Wide nasal bridge	ORPHA:2075
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Pleural Mesothelioma	Weight loss	ORPHA:50251
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Short columella, Obesity, Ventriculomegaly	ORPHA:404443
Joubert Syndrome 9	Encephalocele, Ventriculomegaly	OMIM:612285
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus, Depressed nasal bridge, Prominent nasal bridge	OMIM:619951
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Optic atrophy, Agenesis of corpus callosu...	ORPHA:87
Femoral-Facial Syndrome	Cryptorchidism, Short nose, Ventriculomegaly	ORPHA:1988
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, Short nose	OMIM:618590
Holoprosencephaly 7	Flat nasal alae, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus...	OMIM:610828
Cog8-Cdg	Failure to thrive, Ventriculomegaly	ORPHA:95428
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Depressed nasal bridge, Ventriculomegaly, Increased CSF lactate	OMIM:604377
Trichorhinophalangeal Syndrome Type 2	Bulbous nose, Thick nasal alae, Wide nasal bridge, Ventriculomegaly	ORPHA:502
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:619718
Monosomy 18Q	Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Bulbous nose, Hydrocephalus, Ch...	ORPHA:1600
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Anteverted nares, Prominent nasal tip, Convex nasal ridge, Ventriculomegaly	OMIM:618870
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Ventriculomegaly	OMIM:606854
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Optic atrophy, Ventriculomegaly	OMIM:609180
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Deviated nasal septum	OMIM:123500
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Bulbous nose, Hydrocephalus, Wide nasal bridge, Failure to thrive, Agenesis of co...	ORPHA:250989
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Cryptorchidism, Obesity	OMIM:618653
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Short nose	OMIM:239300
Cerebrooculonasal Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hypoplasia, Hydro...	OMIM:605627
Waardenburg Syndrome, Type 4C	Aganglionic megacolon, Cryptorchidism, Anosmia	OMIM:613266
Houge-Janssens Syndrome 3	Ventriculomegaly, Broad nasal tip	OMIM:618354
Fraser Syndrome 3	Wide nose, Hydrocephalus, Stillbirth, Convex nasal ridge	OMIM:617667
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic disc coloboma, De...	OMIM:607872
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Choanal atresia, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic a...	ORPHA:1555
Rere-Related Neurodevelopmental Syndrome	Anteverted nares, Choanal atresia, Cryptorchidism, Optic atrophy, Ventriculomegaly	ORPHA:494344
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Abnormal cerebrospinal fluid morphology, CSF lymphocytic pleiocytosis, Hyposmia, In...	ORPHA:68
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Ogden Syndrome	Underdeveloped nasal alae, Cryptorchidism, Short columella, Enlarged naris, Ventriculomegaly	ORPHA:276432
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchid...	OMIM:101800
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Ventriculomegaly	OMIM:617563
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Failure to thrive, Wide nasal bridge, Ventriculomegaly	OMIM:618580
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Choanal stenosis, Choanal atresia, Depressed nasal bridge	OMIM:207410
Mitochondrial Complex I Deficiency, Nuclear Type 37	Failure to thrive, Ventriculomegaly, Increased CSF lactate	OMIM:619272
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Anteverted nares	ORPHA:2969
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Optic atrophy, Ventriculomegaly	ORPHA:395
Microcephaly 30, Primary, Autosomal Recessive	Choanal stenosis, Ventriculomegaly	OMIM:620183
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Focal Myositis	Weight loss	ORPHA:48918
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Low hanging columella	OMIM:617260
Malan Syndrome	Short nose, Ventriculomegaly	OMIM:614753
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Ventriculomegaly	ORPHA:254346
Congenital Tufting Enteropathy	Optic disc coloboma, Failure to thrive, Choanal atresia, Weight loss	ORPHA:92050
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Narrow ...	OMIM:616914
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Short nose, Ventriculomegaly	OMIM:614749
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Arachnoiditis	Hydrocephalus	ORPHA:137817
Perry Syndrome	Weight loss	ORPHA:178509
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Wide nasal bridge	OMIM:300896
Alg8-Cdg	Optic atrophy, Failure to thrive, Small for gestational age, Ventriculomegaly	ORPHA:79325
Walker-Warburg Syndrome	Cryptorchidism, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Agenesis of corpus callo...	ORPHA:899
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Cryptorchidism, Ventriculomegaly, Prominent nose	OMIM:300486
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Weight loss	ORPHA:171876
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Obesity, Weight loss, Short nose	ORPHA:251071
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Prominent nasal bridge, Cachexia	ORPHA:2058
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge	ORPHA:2268
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short nose, Ventricul...	OMIM:615803
Aredyld Syndrome	Abnormal nasal morphology, Cachexia	ORPHA:1133
19Q13.11 Microdeletion Syndrome	Cachexia, Underdeveloped nasal alae, Cryptorchidism, Failure to thrive, Broad columella	ORPHA:217346
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Depressed nasal bridge, Wide nasal bridge	OMIM:104350
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Holoprosencephaly, Ven...	OMIM:612530
Jacobsen Syndrome	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic atrophy, Holoprose...	OMIM:147791
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Holoprosencephaly, Short nose, Agenesis...	ORPHA:261236
Congenital-Onset Steinert Myotonic Dystrophy	Obesity, Ventriculomegaly, Decreased body weight	ORPHA:589821
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Charge Syndrome	Depressed nasal bridge, Choanal atresia, Facial palsy, Aqueductal stenosis, Cryptorchidism, Anosm...	ORPHA:138
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus, Depressed nasal bridge	OMIM:616482
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Chromosome 17P13.1 Deletion Syndrome	Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Spina bifida, Bulbous nose, Hyd...	OMIM:613776
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Extra-axial cerebrospinal fluid accumulation, Optic atrophy, Agenesis of corpus callosum, Ventric...	OMIM:617669
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Cryptorchidism, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Wide nasal bridge	ORPHA:1865
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Partial agenesis of the corpus callosum, Optic atrophy, Increased CSF lactate, Increased cup-to-d...	ORPHA:500144
Fumarase Deficiency	Depressed nasal bridge, Anteverted nares, Mitochondrial swelling, Choroid plexus cyst, Optic atro...	OMIM:606812
Hennekam-Beemer Syndrome	Wide nose, Long nose, Optic atrophy, Wide nasal bridge, Failure to thrive, Ventriculomegaly	ORPHA:2135
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Thanatophoric Dysplasia, Type Ii	Neonatal death, Ventriculomegaly	OMIM:187601
Endocrine-Cerebroosteodysplasia	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Holoprosencephaly, Agenesi...	OMIM:612651
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Ventriculomegaly	ORPHA:431361
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Chromosome 2P16.1-P15 Deletion Syndrome	Depressed nasal bridge, Optic nerve hypoplasia, Cryptorchidism, Recurrent upper respiratory tract...	OMIM:612513
Crane-Heise Syndrome	Cryptorchidism, Depressed nasal bridge, Anteverted nares, Ventriculomegaly	ORPHA:1512
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Eosinophilic Gastroenteritis	Allergic rhinitis, Weight loss	ORPHA:2070
Glycine Encephalopathy With Normal Serum Glycine	Depressed nasal bridge, Optic atrophy, Anteverted nares, Ventriculomegaly	OMIM:617301
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Decreased body weight, Neonatal death, Short nose, Vent...	OMIM:608013
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Sotos Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Partial agenesis of th...	OMIM:117550
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Lateral ventricle dilatation	OMIM:147920
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Optic atrophy, Cachexia	ORPHA:220295
Monosomy 9Q22.3	Hydrocephalus, Short nose, Ventriculomegaly, Large for gestational age	ORPHA:77301
Non-Functioning Paraganglioma	Cranial nerve compression, Weight loss	ORPHA:94080
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Decreased motor nerve conduction velocity, Facial diplegia, Cachexia	OMIM:618186
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Failure to thrive, Concave nasal ridge, Small for gestational age, Ventriculomegaly	OMIM:615471
Khan-Khan-Katsanis Syndrome	Failure to thrive, Colpocephaly, Short nose, Ventriculomegaly	OMIM:618460
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Truncal obesity, Convex nasal...	OMIM:616541
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Anosmia, Choanal atresia, Aplasia of the nose	OMIM:603457
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Increased cup-to-disc ratio	ORPHA:447788
Mohr Syndrome	Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip	OMIM:252100
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly	OMIM:616546
Gm1 Gangliosidosis	Depressed nasal bridge, Broad nasal tip, Depressed nasal ridge, Optic atrophy, Weight loss, Failu...	ORPHA:354
Shashi-Pena Syndrome	Mild fetal ventriculomegaly, Ventriculomegaly, Broad nasal tip	OMIM:617190
Rhabdoid Tumor	Weight loss	ORPHA:69077
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short n...	OMIM:618188
Otopalatodigital Syndrome Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Myelomeningocele, Short nose, Failure to th...	ORPHA:90652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Depressed nasal bridge, Convex nasal ridge, Ventriculomegaly	OMIM:241410
Mend Syndrome	Prominent nasal bridge, Abnormal auditory evoked potentials, Cryptorchidism, Hydrocephalus, Abnor...	ORPHA:401973
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum,...	OMIM:619512
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
2P15P16.1 Microdeletion Syndrome	Prominent nasal bridge, Facial palsy, Optic nerve hypoplasia, Optic atrophy, Wide nasal bridge, P...	ORPHA:261349
Warburg Micro Syndrome 3	Short nose, Optic atrophy, Decreased testicular size, Ventriculomegaly	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Bulbous nose, Small for gestational age, Ventriculomegaly	OMIM:614501
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Cachexia, Weight loss	ORPHA:83469
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Optic nerve hypoplasia, Dilated third ventricle, Prominent nasal tip, F...	OMIM:615574
Acromelic Frontonasal Dysostosis	Encephalocele, Optic nerve hypoplasia, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Choroid ...	OMIM:603671
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus, Wide nasal bridge	OMIM:620351
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Narrow nasal ridge, Cryptorchidism, Colpocephaly, Failure to thrive	OMIM:620083
Leopard Syndrome 1	Hyposmia, Cryptorchidism, Spina bifida occulta, Depressed nasal ridge	OMIM:151100
Cardiofaciocutaneous Syndrome 1	Anteverted nares, Depressed nasal bridge, Bulbous nose, Hydrocephalus, Optic nerve dysplasia, Sho...	OMIM:115150
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Cardiofaciocutaneous Syndrome	Anteverted nares, Failure to thrive in infancy, Depressed nasal bridge, Cryptorchidism, Hydroceph...	ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Wide nasal bridge, Lobar holoprosencephaly, Short nose, Ventriculomegaly	OMIM:614701
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Immunodeficiency 27A	Weight loss	OMIM:209950
47,Xyy Syndrome	Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism	ORPHA:8
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Short columella, Ventriculomegaly	OMIM:619775
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Dysplastic corpus callosum, Ventriculomegaly, Low hanging columella	ORPHA:363444
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Optic disc colo...	ORPHA:1454
Felty Syndrome	Recurrent pharyngitis, Rhinitis, Weight loss	ORPHA:47612
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Ventriculomegaly, Concave nasal ridge, Dandy-Walker malformation	OMIM:302960
Sim1-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Cryptorchidism, Obesity, Abdominal obesity, Failure to thrive, Decreased tes...	ORPHA:398079
Mend Syndrome	Prominent nasal bridge, Cryptorchidism, Bulbous nose, Hydrocephalus, Failure to thrive, Dandy-Wal...	OMIM:300960
Hurler Syndrome	Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nasal bridge	OMIM:607014
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Short Syndrome	Wide nasal bridge, Weight loss	ORPHA:3163
Takayasu Arteritis	Weight loss	ORPHA:3287
Craniopharyngioma	Papilledema, Abnormal nasal bone morphology, Hydrocephalus, Optic atrophy, Obesity	ORPHA:54595
Biliary, Renal, Neurologic, And Skeletal Syndrome	Depressed nasal bridge, Anteverted nares, Aqueductal stenosis, Hydrocephalus, Lateral ventricle d...	OMIM:619534
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, Dandy-Walker malformation, Large for gestational age	ORPHA:314588
Koolen-De Vries Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridg...	ORPHA:96169
Mucopolysaccharidosis Type 1	Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Optic atrophy, Thick nasal alae	ORPHA:579
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Anteverted nares, Facial palsy, Broad nasal tip, Cryptorchidism, Failure ...	OMIM:254940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Partial agenesis of the corpus callosum,...	OMIM:614643
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Failure to thrive	ORPHA:974
Mirage Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size, Decreased body weight	OMIM:617053
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly	ORPHA:466934
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Truncal obesity, Ventriculomegaly	ORPHA:2637
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Depressed nasal bridge, Optic nerve hypoplasia, Bilateral cryp...	OMIM:602535
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Colpocephaly, Aplasia of...	OMIM:301043
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Weight loss	ORPHA:216866
Choreoacanthocytosis	Lateral ventricle dilatation, Decreased amplitude of sensory action potentials, Abnormal autonomi...	ORPHA:2388
Whipple Disease	Hydrocephalus, Cachexia	ORPHA:3452
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Short nasal bridge, Meningocele	OMIM:130720
Thakker-Donnai Syndrome	Communicating hydrocephalus, Bulbous nose, Anteverted nares, Agenesis of corpus callosum	ORPHA:1780
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly	OMIM:616683
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Achondroplasia	Hydrocephalus, Choanal stenosis, Depressed nasal bridge	OMIM:100800
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares, Facial palsy, Ventriculomegaly	ORPHA:1358
Curry-Jones Syndrome	Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Depressed nasal bridge, Short nose, Underdeveloped nasal alae	OMIM:616007
Thymic Carcinoma	Weight loss	ORPHA:99868
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Osteosarcoma	Weight loss	ORPHA:668
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Ventriculom...	ORPHA:457284
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Neonatal death, Short nose	OMIM:259775
Sanjad-Sakati Syndrome	Cryptorchidism, Depressed nasal bridge, Convex nasal ridge, Ventriculomegaly	ORPHA:2323
Hurler Syndrome	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Rhinitis, Abnormal ne...	ORPHA:93473
Neu-Laxova Syndrome 2	Spina bifida, Depressed nasal ridge, Ventriculomegaly	OMIM:616038
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Amish Lethal Microcephaly	Optic atrophy, Spina bifida, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:99742
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose, Failure to thrive, Optic atrophy, Ventriculomegaly	OMIM:617527
Liposarcoma	Weight loss	ORPHA:69078
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly, Large for gestational age	OMIM:617011
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:619074
Wilson Disease	Hyposmia, Decreased nerve conduction velocity	OMIM:277900
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Anteverted nares, Cryptorchidism, Failure to thrive, Ventriculomegaly	ORPHA:2462
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Depressed nasal bridge, Choanal atresia, Prominent nose, Bulbous nose, Wide nasal bridge, Dandy-W...	OMIM:300968
Plaa-Associated Neurodevelopmental Disorder	Short nose, Failure to thrive, Optic atrophy, Ventriculomegaly	ORPHA:521426
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Optic atrophy, Ventriculomegaly	OMIM:230600
Kleefstra Syndrome Due To A Point Mutation	Failure to thrive, Ventriculomegaly, Large for gestational age	ORPHA:261652
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesit...	ORPHA:466950
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Anteverted nares, Long nose, Cryptorchidism, Bulbous nose, Ventriculomegaly	OMIM:620224
Neurocutaneous Melanocytosis	Ventriculomegaly, Meningocele, Dandy-Walker malformation	ORPHA:2481
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Convex nasal ridge, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Abdominal obesity, Shor...	OMIM:619321
Alexander Disease	Facial palsy, Aqueductal stenosis, Hydrocephalus, Abnormal autonomic nervous system physiology, F...	ORPHA:58
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Hoyeraal-Hreidarsson Syndrome	Failure to thrive, Ventriculomegaly	ORPHA:3322
Chronic Beryllium Disease	Weight loss	ORPHA:133
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Kaposi Sarcoma	Weight loss	ORPHA:33276
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydrocephalus, Choanal stenosis, Agenesi...	OMIM:101200
Distal Deletion 6P	Wide nose, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Ventriculomegaly	ORPHA:96125
Koolen-De Vries Syndrome	Small for gestational age, Prominent nasal bridge, Cryptorchidism, Bulbous nose, Pear-shaped nose...	OMIM:610443
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Stillbirth, Ventriculomegaly	OMIM:259720
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Ventriculomegaly	OMIM:304790
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Hydrocephalus, Cranial nerve compr...	ORPHA:2356
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Saul-Wilson Syndrome	Narrow nasal bridge, Convex nasal ridge, Ventriculomegaly	OMIM:618150
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Bifid nose	ORPHA:268249
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Kabuki Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Short columella, Failure to thrive, Ventriculomegaly	ORPHA:2322
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Anteverted nares, Ventriculomegaly	OMIM:612394
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology, Ventriculomegaly	OMIM:617903
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Weight loss	ORPHA:183
Cerebrofaciothoracic Dysplasia	Wide nose, Short nose, Ventriculomegaly	ORPHA:1394
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Optic atrophy, Holoprosencephaly, Agenesis of corpus callosum	OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Meningoencephaloc...	OMIM:236670
7Q11.23 Microduplication Syndrome	Broad nasal tip, Cryptorchidism, Hydrocephalus, Obesity, Abnormal columella morphology, Abnormal ...	ORPHA:96121
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Polyarteritis Nodosa	Weight loss	ORPHA:767
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis, Weight loss	OMIM:608710
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Galloway-Mowat Syndrome 1	Small for gestational age, Narrow nasal ridge, Prominent nose, Optic atrophy, Dandy-Walker malfor...	OMIM:251300
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Ventriculomegaly	OMIM:618314
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Obesity, Cachexia, Prominent nose	ORPHA:85293
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Depressed nasal bridge, Anteverted nares, Short nose, Failure to thrive, Ventr...	OMIM:244450
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Colpocephaly, Fa...	OMIM:614866
Congenital Sialidosis Type 2	Hydrocephalus, Optic atrophy	ORPHA:93400
Acute Promyelocytic Leukemia	Epistaxis, Weight loss	ORPHA:520
Kleefstra Syndrome	Anteverted nares, Cryptorchidism, Obesity, Short nose, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261494
Cerebrofacioarticular Syndrome	Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal bridge, Agenesis of co...	ORPHA:314679
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge, Dandy-Walker malformation	ORPHA:314585
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Prominent nasal bridge, Small for gestational age, Underdeveloped nasal alae, Test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Prominent nasal bridge, Small for gestational age, Underdeveloped nasal alae, Test...	ORPHA:363958
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
Pelizaeus-Merzbacher Disease	Optic atrophy, Failure to thrive in infancy, Cachexia	ORPHA:702
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology, Weight loss	OMIM:600072
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Ventriculomegaly	ORPHA:73230
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Optic nerve dysplasia, Anenc...	OMIM:615287
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Ventriculomegaly	ORPHA:261197
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Papilledema	ORPHA:97339
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Absent nares, Holoprosencephaly	ORPHA:2166
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Depressed nasal bridge	ORPHA:1571
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	OMIM:264480
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Cryptorchidism, Neonatal death, Failure to thrive, Ventriculomegaly	OMIM:620024
Osteopathia Striata With Cranial Sclerosis	Facial palsy, Partial agenesis of the corpus callosum, Hydrocephalus, Spina bifida occulta, Wide ...	OMIM:300373
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Cryptorchidism, Wide nasal bridge, Failure to thrive, Ventriculomegaly	ORPHA:444072
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Horner syndrome, Weight loss	OMIM:256700
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia	ORPHA:91348
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Cryptorchidism, Increased body weight, Abdominal obesity, Failure to thrive,...	ORPHA:398069
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Giant Cell Arteritis	Recurrent pharyngitis, Optic atrophy, Epistaxis, Weight loss	ORPHA:397
H Syndrome	Recurrent pharyngitis, Hydrocephalus, Azoospermia, Chronic rhinitis, Decreased testicular size	ORPHA:168569
Isotretinoin-Like Syndrome	Hydrocephalus, Anteverted nares	ORPHA:2306
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Holocarboxylase Synthetase Deficiency	Weight loss	ORPHA:79242
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Ventriculomegaly	ORPHA:96181
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Depressed nasal bridge, Failure to thrive in infancy, Wide nasal bridge, Failure to thrive, Agene...	OMIM:619418
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid...	OMIM:616580
Hajdu-Cheney Syndrome	Wide nose, Anteverted nares, Cryptorchidism, Hydrocephalus, Failure to thrive	OMIM:102500
Opitz-Kaveggia Syndrome	Choanal atresia, Prominent nose, Cryptorchidism, Partial agenesis of the corpus callosum, Hydroce...	OMIM:305450
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Anteverted nares, Narrow nasal tip, Cryptorchidism, Wide nasal bridge, Colpocephaly	ORPHA:477993
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Allergic rhinitis	OMIM:618162
Cardiomyopathy, Familial Hypertrophic, 27	Ventriculomegaly	OMIM:618052
Pyruvate Carboxylase Deficiency	Increased CSF alanine concentration, Increased CSF citrulline concentration, Increased CSF lactat...	ORPHA:3008
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Aymé-Gripp Syndrome	Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Ventriculomegaly	ORPHA:1272
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Narrow nose, Cryptorchidism, Bu...	OMIM:618454
Fryns Syndrome	Anteverted nares, Aganglionic megacolon, Cryptorchidism, Wide nasal bridge, Dandy-Walker malforma...	ORPHA:2059
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Gillespie Syndrome	Ventriculomegaly	OMIM:206700
Pemphigus Vulgaris	Weight loss	ORPHA:704
Combined Oxidative Phosphorylation Deficiency 55	Depressed nasal bridge, Anteverted nares, Ventriculomegaly	OMIM:619743
Fanconi Anemia, Complementation Group W	Ventriculomegaly	OMIM:617784
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Holoprosence...	OMIM:618820
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Ventriculomegaly	OMIM:120200
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Yao Syndrome	Weight loss	OMIM:617321
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Ventriculomegaly, Underdeveloped nasal alae	OMIM:618343
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Prominent nasal bridge, Large for gestational age, Slender build, Ve...	ORPHA:457359
Nephroblastoma	Weight loss	ORPHA:654
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Cryptorchidism, Wide nasal bridge, Depressed nasal tip, Hydrocele testis, ...	ORPHA:261537
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Ventriculomegaly	OMIM:252160
Bohring-Opitz Syndrome	Depressed nasal bridge, Anteverted nares, Optic atrophy, Wide nasal bridge, Severe failure to thr...	ORPHA:97297
Lenz-Majewski Hyperostotic Dwarfism	Choanal atresia, Dysplastic corpus callosum, Cryptorchidism, Spina bifida occulta, Choanal stenos...	OMIM:151050
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal testis morphology, Weight loss	ORPHA:54251
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Recurrent upper respiratory tract infections	OMIM:253220
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Leydig cell neoplasia, F...	ORPHA:361
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Anteverted nares	OMIM:182212
Trisomy 8P	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Recurrent upper respirat...	ORPHA:264450
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Prominent nasal bridge, Optic nerve hypoplasia, Cryptorchidism, Wide nasal bri...	ORPHA:468631
Perry Syndrome	Weight loss	OMIM:168605
Holoprosencephaly 9	Depressed nasal bridge, Optic nerve hypoplasia, Cryptorchidism, Partial agenesis of the corpus ca...	OMIM:610829
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Mucopolysaccharidosis, Type Ii	Papilledema, Hydrocephalus	OMIM:309900
1P31P32 Microdeletion Syndrome	Ventriculomegaly	ORPHA:401986
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Weight loss	ORPHA:221098
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity, Ventriculomegaly	ORPHA:466943
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Cryptorchidism, Optic atrophy, Wide nasal bridge, Depressed nasal tip, Hyd...	ORPHA:261552
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Failure to thrive, Depressed nasal bridge, Ventriculomegaly	OMIM:261515
Fanconi Anemia, Complementation Group L	Hydrocephalus, Wide nasal bridge, Depressed nasal tip	OMIM:614083
Trisomy 18	Choanal atresia, Cachexia, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Short nose	ORPHA:3380
Polycythemia Vera	Epistaxis, Weight loss	ORPHA:729
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Overhanging nasal tip	ORPHA:163979
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Failure to thrive	OMIM:277400
Kinsship Syndrome	Dandy-Walker malformation, Bulbous nose, Failure to thrive, Ventriculomegaly, Low hanging columella	OMIM:619297
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anteverted nares, Midline defect of the nose, Cachexia	ORPHA:1969
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus, Depressed nasal bridge	OMIM:245600
Alobar Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Abnormality of...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Abnormality of...	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Abnormality of...	ORPHA:93924
Semilobar Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Abnormality of...	ORPHA:220386
Loeffler Endocarditis	Weight loss	ORPHA:75566
Prader-Willi Syndrome	Narrow nasal bridge, Cryptorchidism, Abdominal obesity, Failure to thrive, Decreased testicular s...	ORPHA:739
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic atrophy, Failure to thrive	ORPHA:1106
Fanconi Anemia	Aganglionic megacolon, Choanal atresia, Spina bifida, Cryptorchidism, Hydrocephalus, Weight loss,...	ORPHA:84
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Cryptorchidism, Hydrocephalus, Depressed nasal tip, Stillbirth	OMIM:208150
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Rheumatoid Arthritis	Weight loss	OMIM:180300
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Facial palsy, Optic atrophy, Short nose, Ventriculomegaly	OMIM:230740
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Papilledema, Cachexia, Hydrocephalus, Azoospermia, Ventriculome...	ORPHA:2072
Limb Body Wall Complex	Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Hydrocephalus, Myelomeningo...	ORPHA:2369
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Anteverted nares, Ventriculomegaly, Broad nasal tip	OMIM:618548
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Hajdu-Cheney Syndrome	Wide nose, Anteverted nares, Hydrocephalus, Wide nasal bridge, Failure to thrive	ORPHA:955
Meckel Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Depressed nasal ridge, Anencephaly, Optic atrophy, ...	ORPHA:564
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size	ORPHA:813
Basal Cell Nevus Syndrome 1	Hydrocephalus, Wide nasal bridge, Spina bifida	OMIM:109400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Peripapillary atrophy, Short nose	ORPHA:536467
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Epistaxis	ORPHA:137667
Caribbean Parkinsonism	Orthostatic hypotension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiol...	ORPHA:97355
Cockayne Syndrome A	Slender nose, Abnormal auditory evoked potentials, Prominent nose, Decreased nerve conduction vel...	OMIM:216400
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Recurrent upper respiratory tract infections, Depressed nasal...	OMIM:253200
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Cockayne Syndrome B	Slender nose, Small for gestational age, Prominent nasal bridge, Abnormal auditory evoked potenti...	OMIM:133540
Ménétrier Disease	Weight loss	ORPHA:2494
Distal Deletion 3P	Cryptorchidism, Anteverted nares, Ventriculomegaly	ORPHA:1620
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Small for gestational age, Prominent nasal bridge, Cryptorchidism, Failure to ...	ORPHA:464311
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly	ORPHA:289483
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate	OMIM:620306
Wolman Disease	Cachexia	ORPHA:75233
Medulloblastoma	Hydrocephalus, Abnormal cranial nerve morphology	ORPHA:616
Symptomatic Form Of Hfe-Related Hemochromatosis	Testicular atrophy, Weight loss	ORPHA:465508
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Smith-Lemli-Opitz Syndrome	Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Cryptorchidism, Partial agenesis...	OMIM:270400
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Small for gestational age, Narrow nasal tip, Prominent nasal bridge, Cryptorch...	ORPHA:464306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Optic atrophy, Short nose	ORPHA:505248
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia	ORPHA:52503
Toriello-Carey Syndrome	Aganglionic megacolon, Cryptorchidism, Partial agenesis of the corpus callosum, Short nose, Dandy...	ORPHA:3338
Seckel Syndrome	Convex nasal ridge, Cachexia	ORPHA:808
Mucopolysaccharidosis Type 3	Adenoiditis, Hydrocephalus, Optic atrophy, Thick nasal alae, Ventriculomegaly	ORPHA:581
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cranial nerve compression, Weight loss	ORPHA:276621
Distal 22Q11.2 Microduplication Syndrome	Wide nose, Cryptorchidism, Hydrocephalus, Bulbous nose, Depressed nasal ridge, Optic disc coloboma	ORPHA:261337
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Fraser Syndrome 1	Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal alae, Cryp...	OMIM:219000
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Da...	OMIM:249000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Cryptorchidism, Bulbous nose, Hydrocephalus, Oligozoospe...	ORPHA:95699
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Overweight, Bulbous nose, Hydrocephalus, Wide nasal bridge, Obesity, Depressed ...	OMIM:619475
Dubowitz Syndrome	Cryptorchidism, Hydrocephalus, Spina bifida occulta, Depressed nasal bridge	ORPHA:235
Polymyositis	Weight loss	ORPHA:732
Histiocytoid Cardiomyopathy	Optic atrophy, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Costello Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Vestibular schwannoma, Failure to thrive...	OMIM:218040
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Orofaciodigital Syndrome I	Underdeveloped nasal alae, Hydrocephalus, Myelomeningocele, Wide nasal bridge, Agenesis of corpus...	OMIM:311200
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Anosmia, Choanal atresia	ORPHA:2363
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Abnormal testis morphology, Oligozoospermia, Weight loss	ORPHA:85450
Fanconi Anemia, Complementation Group D2	Small for gestational age, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Prominent nasal bridge, Choanal atresia, Spina bifida, Cryptorchidism, Bul...	ORPHA:567
Short-Rib Thoracic Dysplasia 12	Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Neurooculorenal Syndrome	Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Agen...	OMIM:620305
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Choanal stenosis, Shor...	OMIM:269150
Pneumocystosis	Weight loss	ORPHA:723
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy, Ventriculomegaly	OMIM:610651
Refractory Celiac Disease	Weight loss	ORPHA:398063
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Wide nose, Anteverted nares, Short nose	ORPHA:109
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Sturge-Weber Syndrome	Hydrocephalus, Optic atrophy	ORPHA:3205
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Cachexia	ORPHA:300605
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Failure to thrive, Optic atrophy	ORPHA:79282
Tetraamelia Syndrome 1	Hydrocephalus, Single naris, Choanal atresia	OMIM:273395
Campomelic Dysplasia	Depressed nasal bridge, Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections...	OMIM:114290
Celiac Disease, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:212750
Slc39A8-Cdg	Failure to thrive in infancy, Ventriculomegaly, Increased CSF lactate	ORPHA:468699
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Choanal atresia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Codas Syndrome	Cryptorchidism, Depressed nasal bridge, Anteverted nares, Ventriculomegaly	OMIM:600373
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small for gestational age, Broad nasal tip, Cryptorchidism, Bulbous nose,...	OMIM:309590
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Underdeveloped nasal alae, Cryptorchidism, Agenesis of corpus callosum, Vent...	ORPHA:264200
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Hydrocephalus, Wide nasal bridge, Failure to thrive, Agenesis of corpus callosum, Abno...	ORPHA:2556
Cystic Echinococcosis	Abnormality of the testis size, Weight loss	ORPHA:400
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Prominent nasal bridge	OMIM:154400
Wolf-Hirschhorn Syndrome	Small for gestational age, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Failure to thrive, A...	OMIM:194190
Fontaine Progeroid Syndrome	Depressed nasal bridge, Small for gestational age, Cryptorchidism, Hydrocephalus, Neonatal death,...	OMIM:612289
Al Amyloidosis	Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto...	ORPHA:85443
Dextrocardia	Hydrocephalus	ORPHA:1666
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Thick nasal septum, Decreased body weight, Short nose, Thick nasal a...	OMIM:303600
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Primary Myelofibrosis	Cachexia	ORPHA:824
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:199299
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Coffin-Siris Syndrome 12	Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdeveloped nasal alae, Faci...	OMIM:619325
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Failure to thrive, Ventriculomegaly, Increased CSF lactate	OMIM:617248
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Charge Syndrome	Facial palsy, Choanal atresia, Cryptorchidism, Anosmia, Holoprosencephaly	OMIM:214800
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Short nasal bridge, Optic atrophy, Ventriculomegaly	OMIM:253280
6Q Terminal Deletion Syndrome	Colpocephaly, Failure to thrive, Obesity	ORPHA:75857
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Marden-Walker Syndrome	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:2461
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Wiedemann-Rautenstrauch Syndrome	Anteverted nares, Depressed nasal bridge, Narrow nasal ridge, Narrow nose, Small for gestational ...	OMIM:264090
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Hermansky-Pudlak Syndrome	Epistaxis, Weight loss	ORPHA:79430
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal tip, Failure to thrive, Ventriculomegaly	ORPHA:513456
Beta-Ketothiolase Deficiency	Weight loss	ORPHA:134
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Zttk Syndrome	Depressed nasal bridge, Dysplastic corpus callosum, Optic atrophy, Wide nasal bridge, Short nose,...	OMIM:617140
Hereditary Pheochromocytoma-Paraganglioma	Cranial nerve compression, Weight loss	ORPHA:29072
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Rett Syndrome	Cachexia	OMIM:312750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Nijmegen Breakage Syndrome	Depressed nasal bridge, Prominent nasal bridge, Cachexia, Prominent nose, Convex nasal ridge	ORPHA:647
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Hypoglyc...	ORPHA:228123
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Prominent nasal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Prominent nasal...	ORPHA:353277
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Hydrocele testis, Narrow naris, Holo...	ORPHA:1449
Klatskin Tumor	Weight loss	ORPHA:99978
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Thymoma	Weight loss	ORPHA:99867
Ctcf-Related Neurodevelopmental Disorder	Anteverted nares, Small for gestational age, Broad nasal tip, Cryptorchidism, Short columella, Sh...	ORPHA:363611
Pseudoaminopterin Syndrome	Cryptorchidism, Hydrocephalus, Prominent nasal bridge	ORPHA:221120
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Knobloch Syndrome 1	Occipital encephalocele, Optic disc pallor, Depressed nasal bridge, Bulbous nose, Peripapillary a...	OMIM:267750
Osteogenesis Imperfecta	Small for gestational age, Hydrocephalus, Noncommunicating hydrocephalus, Convex nasal ridge, Ven...	ORPHA:666
Neu-Laxova Syndrome 1	Wide nose, Hydranencephaly, Spina bifida, Cryptorchidism, Depressed nasal ridge, Choroid plexus c...	OMIM:256520
Mucolipidosis Type Ii	Depressed nasal bridge, Weight loss	ORPHA:576
Hydrolethalus Syndrome 1	Anencephaly, Stillbirth, Bifid nose, Midline defect of the nose, Severe hydrocephalus, Agenesis o...	OMIM:236680
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Optic nerve compression, Chronic rhinitis	ORPHA:667
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Facial palsy, Bilateral vestibular schwannoma	ORPHA:637
Riddle Syndrome	Recurrent sinusitis, Weight loss	ORPHA:420741
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Anteverted nares, Prominent nasal bridge, Dep...	OMIM:619841
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Depressed nasal bridge	ORPHA:309282
Cryptococcosis	Hydrocephalus, Abnormal cranial nerve morphology	ORPHA:1546
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss	ORPHA:20
Yunis-Varon Syndrome	Narrow nasal base, Anteverted nares, Cryptorchidism, Hydrocephalus, Severe failure to thrive, Age...	ORPHA:3472
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Myelomeningocele	OMIM:306955
Baller-Gerold Syndrome	Prominent nasal bridge, Optic nerve hypoplasia, Underdeveloped nasal alae, Hydrocephalus, Optic a...	OMIM:218600
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Lynch Syndrome	Weight loss	ORPHA:144
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Bulbous nose, Wide nose, Depressed nasal bridge, Ventriculomegaly	OMIM:610442
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Genitopatellar Syndrome	Wide nose, Prominent nasal bridge, Prominent nose, Cryptorchidism, Wide nasal bridge, Colpocephal...	OMIM:606170
Peters Plus Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Optic atrophy, Short col...	ORPHA:709
Pyomyositis	Testicular teratoma, Weight loss	ORPHA:764
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Schwartz-Jampel Syndrome	Prominent nasal bridge, Cachexia, Decreased body weight, Testicular torsion, Decreased testicular...	ORPHA:800
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:95409
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Microsporidiosis	Rhinitis, Cachexia, Weight loss	ORPHA:2552
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Gabriele-De Vries Syndrome	Small for gestational age, Cryptorchidism, Bulbous nose, Agenesis of corpus callosum, Ventriculom...	ORPHA:506358
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Wide nose, Decreased nerve conduction velocity, Recurre...	ORPHA:580
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Granulomatosis With Polyangiitis	Weight loss, Epistaxis, Abnormality of the nose	ORPHA:900
Igg4-Related Retroperitoneal Fibrosis	Hydrocele testis, Weight loss	ORPHA:49041
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Proboscis Lateralis	Choanal atresia, Proboscis, Optic nerve hypoplasia, Optic disc coloboma, Single naris, Holoprosen...	ORPHA:141099
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Juvenile Polyposis Of Infancy	Depressed nasal bridge, Cachexia	ORPHA:79076
Focal Dermal Hypoplasia	Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Cryptorchidism, Hydrocephalus, Myelomeningo...	OMIM:305600
Thyrotoxic Periodic Paralysis	Obesity, Abnormality of peripheral nerve conduction, Weight loss	ORPHA:79102
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Addison Disease	Primary testicular failure, Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:85138
Tetrasomy 9P	Cryptorchidism, Bulbous nose, Hydrocephalus, Oligozoospermia, Convex nasal ridge, Dandy-Walker ma...	ORPHA:3310
Lymphangioleiomyomatosis	Hydrocephalus, Optic atrophy	ORPHA:538
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Townes-Brocks Syndrome 1	Small for gestational age, Choanal atresia, Cryptorchidism, Hydrocephalus, Holoprosencephaly	OMIM:107480
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Familial Thrombocytosis	Weight loss	ORPHA:71493
Q Fever	Weight loss	ORPHA:781
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Caroli Disease	Weight loss	ORPHA:53035
Oculopharyngodistal Myopathy 1	Facial palsy, Weight loss	OMIM:164310
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Wiedemann-Rautenstrauch Syndrome	Anteverted nares, Wide nasal ridge, Slender build, Cryptorchidism, Hydrocephalus, Optic atrophy, ...	ORPHA:3455
Alveolar Echinococcosis	Weight loss	ORPHA:284
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Sarcoidosis	Abnormal nasal mucosa morphology, Facial palsy, Abnormal cerebrospinal fluid morphology, Weight l...	ORPHA:797
Castleman Disease	Weight loss	ORPHA:160
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Pancreatoblastoma	Weight loss	ORPHA:677
Brucellosis	Small for gestational age, Abnormality of the peripheral nervous system, Orchitis, Weight loss, F...	ORPHA:1304
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Cachexia, Depressed nasal ridge, Short nose, Slender build	ORPHA:828
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Hutchinson-Gilford Progeria Syndrome	Narrow nasal tip, Narrow nasal ridge, Weight loss, Abnormal nasal tip morphology, Severe failure ...	ORPHA:740
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth	OMIM:304120
African Trypanosomiasis	Myelopathy, Papilledema, Ventriculomegaly, Weight loss	ORPHA:3385
Tropical Pancreatitis	Weight loss	ORPHA:103918
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Cockayne Syndrome	Optic disc pallor, Cachexia, Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, ...	ORPHA:191
Postinfectious Vasculitis	Orchitis, Abnormality of the peripheral nervous system, Weight loss	ORPHA:48435
Immunodeficiency 31C	Weight loss	OMIM:614162
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Multiple Myeloma	Weight loss	ORPHA:29073
Parathyroid Carcinoma	Testicular neoplasm, Weight loss	ORPHA:143
Malt Lymphoma	Weight loss	ORPHA:52417
Rat-Bite Fever	Weight loss	ORPHA:31205
Oeis Complex	Cryptorchidism, Hydrocephalus, Myelomeningocele	OMIM:258040
Aicardi-Goutieres Syndrome 7	Weight loss	OMIM:615846
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Weight loss	ORPHA:60025
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Peters-Plus Syndrome	Cryptorchidism, Hydrocephalus, Decreased body weight, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Reactive Arthritis	Weight loss	ORPHA:29207
Simpson-Golabi-Behmel Syndrome, Type 1	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short...	OMIM:312870
Roberts-Sc Phocomelia Syndrome	Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Wide nasal bridg...	OMIM:268300
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Ppoma	Weight loss	ORPHA:97278
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus	ORPHA:3042
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Camurati-Engelmann Disease	Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build	ORPHA:1328
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus	ORPHA:636
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Cryptorchidism, Dandy-Walker malformation, Agenesis of corpus ...	ORPHA:93271
Behçet Disease	Orchitis, Weight loss	ORPHA:117
Cystinosis, Nephropathic	Failure to thrive in infancy, Weight loss	OMIM:219800
Somatostatinoma	Weight loss	ORPHA:97283
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Vipoma	Weight loss	ORPHA:97282
Glucagonoma	Weight loss	ORPHA:97280
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss	ORPHA:79078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss	ORPHA:90794
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Weight loss	OMIM:181000
Marfan Syndrome	Meningocele, Slender build, Cachexia	ORPHA:558
Multiple Endocrine Neoplasia Type 1	Cranial nerve compression, Weight loss	ORPHA:652
Dermatomyositis	Weight loss	ORPHA:221
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Proteus Syndrome	Depressed nasal bridge, Anteverted nares, Testicular neoplasm, Cachexia, Macroorchidism, Thick na...	ORPHA:744
Norrie Disease	Narrow nasal bridge, Cachexia, Cryptorchidism, Optic atrophy, Failure to thrive	ORPHA:649
Nocardiosis	Weight loss	ORPHA:31204
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:322
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Facial paralysis, Peripapillary atrophy	OMIM:175780
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Kikuchi-Fujimoto Disease	Weight loss	ORPHA:50918
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Weight loss	ORPHA:91500
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
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Goodpasture Syndrome	Weight loss	OMIM:233450
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cetn2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cetn2.

No publications found that use IMPC mice or data for Cetn2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cetn2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cetn2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cetn2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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