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Gene: Rnd3 MGI:1921444

Gene Summary

Name:

Rho family GTPase 3

Synonyms:

2610017M01Rik, Rhoe, Arhe

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged heart	Rnd3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
increased large unstained cell number	Rnd3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.11×10^-06
decreased grip strength	Rnd3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.96×10^-05
polycystic kidney	Rnd3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Lower urinary tract	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	50% (1 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	50% (1 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	100% (2 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	50% (1 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	100% (2 of 2)
Head	N/A	heterozygote	50% (1 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	0.0% (0 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	50% (1 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Echo

M-Mode Images

28 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Adult LacZ

LacZ Images Wholemount

3 Images

View images

Immunophenotyping

Panel B FCS file(s)

8 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Rnd3 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 Rnd3 (0 diseases)
Human diseases predicted to be associated with Rnd3 (1426 diseases)

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

The table below shows human diseases predicted to be associated to Rnd3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Ethanolaminosis	Cardiomegaly	OMIM:227150
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, D...	OMIM:613154
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Hearing impairment, Bilateral ptosis, I...	OMIM:619701
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop...	ORPHA:95434
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to ...	ORPHA:330050
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Flexion contracture, Lower limb muscle weakness, Abnormal lower motor neuron morphology, ...	ORPHA:2590
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Paucity of a...	OMIM:611890
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis	ORPHA:3035
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Huntington Disease-Like 2	Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dystonia	ORPHA:98934
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	ORPHA:352682
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Ptosis, Ataxia, Facial palsy, Cachexia, Aggressive be...	ORPHA:97229
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem	ORPHA:250972
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Short stature, Bilateral tonic-clonic seizure, Babinski sig...	OMIM:619065
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ...	ORPHA:247604
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss...	ORPHA:216866
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call...	OMIM:619895
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hypoplasia o...	OMIM:619302
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums...	ORPHA:399
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Spinocerebellar Ataxia, Autosomal Recessive 12	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Optic atrophy, Limb...	OMIM:614322
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Huntington Disease-Like 1	Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax...	ORPHA:157941
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Fusion of the left and right thal...	OMIM:617542
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Slender build, Aggressive behavior	OMIM:617709
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum	OMIM:617296
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm...	ORPHA:98897
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Parkinsonism, Cachexia, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinsk...	OMIM:618093
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dyspha...	OMIM:617862
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology	ORPHA:1532
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse	OMIM:173900
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking, Giant...	OMIM:613608
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical abse...	ORPHA:225147
Galloway-Mowat Syndrome	Aqueductal stenosis	ORPHA:2065
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inabil...	OMIM:619639
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t...	OMIM:300423
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Fried Syndrome	Hydrocephalus	ORPHA:85335
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus, Fa...	OMIM:609056
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Synophrys, Unsteady gait, Seizure, Lar...	OMIM:620317
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn...	OMIM:608636
Hsd10 Disease	Ataxia, Tremor, Postnatal growth retardation, Rigidity, Optic atrophy, Choreoathetosis, Seizure, ...	ORPHA:391417
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Bi...	ORPHA:100988
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Tre...	OMIM:128100
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-...	ORPHA:36387
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity...	OMIM:618090
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Action tremor, Inability to wal...	ORPHA:93952
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:618266
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,...	OMIM:616230
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati...	OMIM:263200
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ...	OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto...	OMIM:618924
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-...	OMIM:617904
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ...	OMIM:301020
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Generalized non-motor (...	OMIM:617810
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m...	OMIM:611637
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se...	ORPHA:382
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Meningocele, Colpocephaly, Lateral ventricle ...	ORPHA:397715
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebrospinal fluid morphology, Atrophy/Degeneration affecting ...	ORPHA:314404
Christianson Syndrome	Decreased muscle mass, Dystonia, Generalized-onset seizure, Cachexia, Dysphagia, Gait ataxia, Ina...	ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata...	OMIM:617831
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Short thumb, Gait ataxia, Status epilepticus, Myoclonus, Generali...	OMIM:616540
Foxg1 Syndrome	Dystonia, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Foc...	ORPHA:561854
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Severe short stature, Ataxia, Generalized myoclonic seizure, Proportiona...	ORPHA:3208
Microcephaly-Micromelia Syndrome	Aqueductal stenosis	OMIM:251230
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ...	ORPHA:464282
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Infantile Cerebellar-Retinal Degeneration	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural hearing impairment, Op...	OMIM:614559
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Meckel Syndrome, Type 8	Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen...	DECIPHER:29
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generaliz...	OMIM:203740
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Joubert Syndrome 30	Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Bruxism, Myocl...	OMIM:618497
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Seizure, Slender build, Hearing impairment	OMIM:613662
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Flexion contracture, Focal tonic s...	OMIM:617106
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem	OMIM:615191
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, ...	OMIM:617836
Landau-Kleffner Syndrome	Speech apraxia, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral t...	ORPHA:98818
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Hypoplasia of the pons, Hypoplasia of the brainstem, Dilated third vent...	OMIM:615574
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ...	OMIM:162350
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s...	OMIM:617113
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclonic seizure, Chorea, ...	OMIM:616981
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Scapuloperoneal a...	OMIM:611067
Neurooculorenal Syndrome	Ectopic posterior pituitary, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial ...	OMIM:620305
Pfeiffer Syndrome Type 3	Aqueductal stenosis	ORPHA:93260
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Lower limb muscle weakness, Bilateral tonic-clonic seizure, Generalized myoclon...	ORPHA:313772
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clonic seizure, Focal-o...	OMIM:618917
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Mitochondrial Complex I Deficiency, Nuclear Type 15	Bilateral tonic-clonic seizure, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy...	OMIM:618237
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen...	OMIM:616346
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Dravet Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:544488
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst...	OMIM:104290
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc...	OMIM:608776
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Hypoplasia of the brainstem	OMIM:618174
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	ORPHA:58
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Short stature, Cachexia, Decreased nerve conduction velocity, Se...	ORPHA:1933
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:619512
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Pelizaeus-Merzbacher Disease	Ataxia, Short stature, Cachexia, Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Se...	ORPHA:702
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Cerebral palsy, Overlapping toe, Generalized-onset seizure, Highly arched eyebro...	OMIM:617976
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Slurred speech, Seizure, Type 1 muscle fiber predominanc...	ORPHA:972
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs...	OMIM:616409
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Short stature, Cachexia, Chorea, Athetosis, Seizure...	ORPHA:52503
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par...	OMIM:607641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem	OMIM:615181
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig...	OMIM:137440
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:77299
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid...	OMIM:612736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Dandy-Walker malformation, Ag...	OMIM:613153
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Resting tremor, Lower limb spasticity, Short stature, Hoffmann sign...	OMIM:601162
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Continuous Spikes And Waves During Sleep	Speech apraxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Fo...	ORPHA:725
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sensation, Optic atrophy...	ORPHA:98768
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking, Attention defic...	OMIM:619191
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Gait ataxia, Seizure, Status epilepticus, Failure to thrive	OMIM:612075
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Boucher-Neuhauser Syndrome	Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten...	OMIM:215470
Mohr-Tranebjaerg Syndrome	Tremor, Intrinsic hand muscle atrophy, Dysphagia, Spasticity, Postlingual sensorineural hearing i...	OMIM:304700
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram...	ORPHA:397946
Basel-Vanagaite-Smirin-Yosef Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	ORPHA:464738
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Molar to...	OMIM:610688
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M...	ORPHA:2382
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Bilateral tonic-clonic seizure, Decreased nerve ...	ORPHA:457205
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Short stature, Fatty replacement of skeletal muscle...	ORPHA:52430
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Dystonia, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Cho...	OMIM:617282
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Hypoplasia of the brainstem	OMIM:613155
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Foca...	OMIM:617166
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Ptosis, Epicanthus, Limb joint contracture, Cachexia, ...	OMIM:618186
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Dandy-Walker malformation, Agenesis ...	OMIM:225790
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Transposition of the great arteries, Double o...	OMIM:231060
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spasti...	OMIM:615031
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Epicanthus, Facial hypotonia, Failure to thrive in infancy, Cachexia, Tapered fi...	OMIM:616801
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Hepatic cysts, Situs inversus totalis, Splenomegaly, Pancreati...	OMIM:208540
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Gm1 Gangliosidosis	Tremor, Decerebrate rigidity, Ataxia, Short stature, Bilateral tonic-clonic seizure with generali...	ORPHA:354
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Chorea, Abnormal pyramidal sign, Gait ataxia, Opisthotonus, Hypertonia, Lethargy, Facial palsy, S...	OMIM:607483
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Dandy-Walker mal...	OMIM:611134
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Gait apraxia, Bruxism, Gait ataxia, S...	OMIM:312750
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Dysphagia, Athet...	OMIM:617493
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non...	OMIM:607682
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Progressive cerebellar...	ORPHA:263516
Sarcosinemia	Peroneal muscle weakness, Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraparesis, In...	ORPHA:3129
Aicardi Syndrome	Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil...	OMIM:304050
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv...	ORPHA:485350
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Short statu...	ORPHA:208447
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson...	OMIM:614298
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Seizure, Status ep...	ORPHA:529665
Arachnoiditis	Hydrocephalus	ORPHA:137817
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Bilateral tonic-clonic seizure, Rigidity...	OMIM:619911
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Sparse eyelashes, Bilateral tonic-clonic seizure, Spar...	OMIM:617988
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,...	OMIM:617056
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoathetosis, Myoclo...	ORPHA:726
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypoplastic left heart, Polycystic kidney...	ORPHA:261290
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Ptosis, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Sensorineural hearing impair...	OMIM:618170
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of...	ORPHA:370959
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Cln3 Disease	Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Fo...	ORPHA:228346
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Joubert Syndrome 3	Molar tooth sign on MRI, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elongate...	OMIM:608629
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li...	OMIM:617350
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi...	OMIM:168605
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance	ORPHA:157973
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain...	ORPHA:300573
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor...	OMIM:271980
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morph...	ORPHA:314588
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Babinski sign, Seizure, Inappropriate behavior, Disinhibition, Gait disturba...	OMIM:221770
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Al Kaissi Syndrome	Epicanthus, Torticollis, Telecanthus, Broad-based gait, Short stature, Posteriorly rotated ears, ...	OMIM:617694
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Holocarboxylase Synthetase Deficiency	Ataxia, Anorexia, Keratoconjunctivitis, Growth delay, Weight loss, Seizure, Lethargy	ORPHA:79242
Polyglucosan Body Neuropathy, Adult Form	Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Paresth...	OMIM:263570
Pulmonary Blastoma	Weight loss	ORPHA:64741
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Toe syndactyly, Sandal gap, Camptodactyly of finger, Broad-based gait, Blepharophimos...	ORPHA:85293
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Weight loss, Bradykinesi...	ORPHA:411602
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Dy...	ORPHA:276244
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology, Ethmoidal encepha...	ORPHA:280195
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Flexion contracture, Protruding ear, Broad hallux, Arachnodactyly, Ataxi...	ORPHA:481152
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dilat...	ORPHA:434179
Mantle Cell Lymphoma	Anorexia, Weight loss	ORPHA:52416
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Muscle fiber at...	ORPHA:2388
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele	OMIM:306955
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of the ventral pons	OMIM:607596
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo...	OMIM:607876
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:618067
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movement...	ORPHA:457240
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Temple Syndrome	Hydrocephalus, Decreased response to growth hormone stimulation test	ORPHA:254516
Pallister-Hall-Like Syndrome	Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma	OMIM:241800
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s...	OMIM:619428
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Met...	ORPHA:26791
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Distal lower limb amyotrophy, Spastic paraplegia, Babinski sign, Ab...	ORPHA:459056
Wiedemann-Steiner Syndrome	Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Brow ptosis, Hyp...	OMIM:605130
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
3-Methylglutaconic Aciduria, Type V	Ataxia, Postnatal growth retardation, Optic atrophy, Seizure, Nonprogressive cerebellar ataxia, D...	OMIM:610198
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Oculopharyngodistal Myopathy 1	Ptosis, Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Bilateral ptosis, Sensorineural hearin...	OMIM:164310
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Progressive spa...	ORPHA:329308
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Abnormal heart morphology, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidn...	OMIM:214110
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Spastic tetraparesis, Tonic seizure, Infantile spasms, Inability ...	OMIM:618012
Developmental And Epileptic Encephalopathy 103	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat...	OMIM:619913
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Sensorineural hearing...	ORPHA:298
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Molar tooth sign on MRI, Dandy-Wa...	OMIM:614175
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Seizure, Progressive sensorin...	ORPHA:2047
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Shortening of all dista...	OMIM:615716
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Clonic seizure, Gait ataxia, Choreoathetosis, Opisthotonus, Myoclonic seizure, Abnormal repetitiv...	OMIM:619580
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis	ORPHA:79087
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Intellectual Developmental Disorder, X-Linked 98	Self-biting, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hyperactivity, Ataxi...	OMIM:300912
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Flexion contra...	OMIM:617105
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Clonus, Hypoglycemic seizures, Hypertonia, Ataxia, Seizure, EMG: myopathic abnormalities, Incoord...	ORPHA:480864
Idiopathic Achalasia	Weight loss, Dysphagia	ORPHA:930
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Fatal Familial Insomnia	Ataxia, Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:600072
Familial Infantile Myoclonic Epilepsy	Ataxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Si...	ORPHA:352582
Chronic Hiccup	Weight loss, Abnormality of the diaphragm, Abnormal eating behavior	ORPHA:396
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Myopathy, Distal arthr...	ORPHA:42
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean plate...	ORPHA:84064
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-...	ORPHA:395
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Weight loss	ORPHA:141152
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculomegaly	OMIM:609757
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive	OMIM:256700
Charge Syndrome	Aqueductal stenosis, Anterior hypopituitarism, Holoprosencephaly, Dandy-Walker malformation	ORPHA:138
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617563
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum	OMIM:619517
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Tuberculosis	Weight loss	ORPHA:3389
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu...	ORPHA:79139
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ...	ORPHA:101039
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Hip contracture, Arachnodactyly, Short stature, Cachexia, Elbo...	ORPHA:371364
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi...	ORPHA:168491
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts	ORPHA:2924
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Febrile seizure (within the age range of 3 months to 6 years), Dystonia,...	ORPHA:496641
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Short stature, Cachexia, Synophrys, Aplasia/Hypoplasia of the ...	ORPHA:2471
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Renpenning Syndrome	Skeletal muscle atrophy, Epicanthus, Severe short stature, Cachexia, Abnormal thumb morphology, S...	ORPHA:3242
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Skeletal muscle atrophy, Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic s...	OMIM:617193
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Oromandibular Dystonia	Limb dystonia, Torticollis, Generalized dystonia, Dysphagia, Weight loss, Blepharospasm, Hyperkin...	ORPHA:93958
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Spastic hemipare...	ORPHA:268940
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the brainstem	OMIM:615249
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At...	ORPHA:2131
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Hepatosplenomegal...	OMIM:614866
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe...	OMIM:609583
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Weight loss	ORPHA:391
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Ataxia, Short stature, Impulsivity, Tapered finger, Aggressive behav...	OMIM:619435
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Warburg Micro Syndrome 3	Lower limb spasticity, Decreased muscle mass, Bilateral tonic-clonic seizure, Blepharophimosis, P...	OMIM:614222
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Bilateral...	OMIM:268800
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Lower limb muscle weakness, Tapered finger, Focal hemiclonic se...	OMIM:616973
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux,...	ORPHA:1166
Intellectual Developmental Disorder, Autosomal Dominant 34	Epicanthus, Broad-based gait, Bilateral tonic-clonic seizure, Bilateral ptosis, Synophrys, 2-3 to...	OMIM:616351
Joubert Syndrome 10	Molar tooth sign on MRI	OMIM:300804
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap...	OMIM:607225
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia, Splenic cyst	OMIM:610199
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia	OMIM:618886
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology	OMIM:613390
Caroli Disease	Hepatomegaly, Liver abscess, Splenomegaly, Leukocytosis, Polycystic kidney dysplasia	ORPHA:53035
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, Polycystic kidney dy...	OMIM:606232
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the pons, Hydrocephalus	OMIM:620157
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Central Diabetes Insipidus	Anorexia, Weight loss, Seizure, Lethargy, Polydipsia, Failure to thrive	ORPHA:178029
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Seizure, Abnormal antihelix morpholo...	ORPHA:1438
Laryngeal Neuroendocrine Tumor	Weight loss, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Chorea, Myopathy, Limb-girdle muscular dystrophy, ...	ORPHA:369840
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, ...	ORPHA:435638
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Caroli Syndrome	Hepatomegaly, Liver abscess, Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, ...	ORPHA:480520
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:420179
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, ...	OMIM:614424
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker malformation	OMIM:220210
Non-Functioning Paraganglioma	Pulsatile tinnitus, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, Conduct...	ORPHA:94080
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ...	ORPHA:206436
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Hypoplasia o...	OMIM:608091
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Short stature, Proximal placement of thumb, Congenital diaphrag...	ORPHA:251071
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn...	ORPHA:79243
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Situs inversus totalis, Asplenia, Hypertrophic cardiomyopathy, Aorti...	OMIM:615415
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Rhombencephalosynapsis	Fusion of the left and right thalami, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Halperin-Birk Syndrome	Generalized-onset seizure, Congenital diaphragmatic hernia, Inability to walk, Focal-onset seizur...	OMIM:618651
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Calf muscle pseudohypertrophy, Ataxia, Short stature, Chaddock refl...	ORPHA:96180
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D...	OMIM:616437
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:2169
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Intestinal Dysmotility Syndrome	Failure to thrive, Low-set ears, Weight loss	OMIM:620045
De Sanctis-Cacchione Syndrome	Entropion, Ataxia, Severe short stature, Bilateral tonic-clonic seizure, Sensorineural hearing im...	OMIM:278800
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Slc35A2-Cdg	Lateral ventricle dilatation, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/De...	ORPHA:356961
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Temple Syndrome	Hydrocephalus	OMIM:616222
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Moynahan Syndrome	Seizure, Sensorineural hearing impairment, Short stature, Cachexia	ORPHA:2574
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Camptodactyly of finger, Cachexia, Metacarpal osteolysis, Gait disturbance, Carpal o...	ORPHA:2774
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Polydipsia, Weight loss	ORPHA:30925
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Joubert Syndrome 7	Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia	OMIM:611560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degenera...	ORPHA:135
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220497
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Erythrokeratodermia Variabilis	Short stature, Hearing impairment, Tapered finger, Protruding ear, Weight loss, Brachydactyly	ORPHA:317
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology	ORPHA:8
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hydrolethalus	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	ORPHA:2189
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:614815
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasia, Lateral ventricle dilatation	OMIM:619534
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Clumsiness, Proximal mus...	ORPHA:905
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Arachnodactyly, Slender build, Bilateral tonic-clonic seizure, Cho...	OMIM:617600
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Walker malformation, Ventricu...	OMIM:617822
Biotinidase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Infantile spasms, Myelopathy, Sensorine...	ORPHA:79241
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Neuromuscular Oculoauditory Syndrome	Epicanthus, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Decreased...	OMIM:618733
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Splenomegaly, Hyperspl...	ORPHA:731
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Lethargy, Abnormal posturing, Failure to thrive	OMIM:614857
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Telecanthus, Broad hallux, Pain insensitivity, Bilateral tonic-clonic seizure, Taper...	OMIM:620224
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem	OMIM:614969
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus	ORPHA:2318
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:617751
Joubert Syndrome 20	Renal cyst	OMIM:614970
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormal brainstem morphology	ORPHA:2720
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Clubbing of toes, Dysphagia	ORPHA:2198
Meckel Syndrome 14	Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Inability to walk, Senso...	ORPHA:457351
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral tonic-clonic seizure, Hearing impairment, Bilateral ptosis, Weight loss, Lower-...	ORPHA:99885
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	ORPHA:2836
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Galactose Epimerase Deficiency	Growth delay, Weight loss	ORPHA:79238
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Ragged-red muscle fib...	ORPHA:255210
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia, Sensorineural hearing impairment, Arachnodactyly, Short stature	ORPHA:1144
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizure,...	OMIM:619487
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Short stature, Sensorineural hearing impairm...	ORPHA:388
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal...	ORPHA:501
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Spastic tetraplegia, Generalized ...	ORPHA:79351
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin...	OMIM:616546
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:221098
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Lynch Syndrome	Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Seizure, Hyper...	ORPHA:144
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventricul...	OMIM:613150
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, P...	ORPHA:268943
Giant Cell Arteritis	Ataxia, Anorexia, Hearing impairment, Optic atrophy, Weight loss, Paresthesia, Conductive hearing...	ORPHA:397
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor...	ORPHA:1435
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220493
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Beta-Ketothiolase Deficiency	Ataxia, Anorexia, Weight loss, Seizure, Agitation, Extrapyramidal dyskinesia, Oral aversion, Spas...	ORPHA:134
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma	OMIM:253250
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Camurati-Engelmann Disease	Skeletal muscle atrophy, Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical...	ORPHA:1328
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Splenomegaly, Vesico...	ORPHA:567
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	OMIM:614643
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Distal Deletion 12Q	Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret...	ORPHA:96149
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Sensorineural hearing impairment, Ragged-red muscle fibers, Weight loss, ...	OMIM:603041
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:2576
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Seizure, Hyper...	ORPHA:440437
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, Hyperactivity, Seizure, Myoclonus, Episodic ataxia, Febrile seizure (wit...	ORPHA:1934
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Tremor, Postnatal growth ...	OMIM:612199
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami, Hypoplasia of the brainstem, Dilated fourth ventricle, Mola...	OMIM:619306
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Pontocerebellar atrophy	OMIM:617854
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Developmental And Epileptic Encephalopathy 100	Synophrys, Chorea, Gait ataxia, Choreoathetosis, Myoclonic seizure, Abnormal repetitive mannerism...	OMIM:619777
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy...	OMIM:212140
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short stature, Aganglionic megacolon, Bilateral tonic-clonic seizure, Inability to walk, Sensorin...	OMIM:614207
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Polycystic kidney dysplas...	OMIM:311200
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Celiac Disease, Susceptibility To, 1	Ataxia, Short stature, Postnatal growth retardation, Weight loss, Seizure, Delayed puberty, Failu...	OMIM:212750
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutr...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac...	OMIM:614922
Polymyositis	Weight loss, Gait disturbance, Anorexia, Abnormal muscle fiber morphology	ORPHA:732
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag...	OMIM:216360
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Whipple Disease	Myositis, Ataxia, Cachexia, Anorexia, Abnormal pyramidal sign, Seizure, Myoclonus, Polydipsia	ORPHA:3452
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia	OMIM:263520
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Asplenia, Splenomegaly, Abnormality ...	OMIM:249000
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta...	ORPHA:2044
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria, I...	ORPHA:445038
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Anorexia, Spinal cord tumor, Weight loss, Seizure, Lowe...	ORPHA:370348
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Cystic Echinococcosis	Hepatomegaly, Abscess, Eosinophilia, Peritoneal abscess, Renal cyst, Abnormal heart morphology, O...	ORPHA:400
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Walker-Warburg Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Renal cyst, Abnormal...	ORPHA:488618
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Increased CSF protein concentrat...	ORPHA:206448
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Hypoplasia of t...	OMIM:615287
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, 2-3 toe cutaneous syndactyly, Dysmetria, Gait ataxia, Hand tremor, Protruding ear, Sho...	OMIM:614756
Vici Syndrome	Epicanthus, Postnatal growth retardation, Sensorineural hearing impairment, Myopathy, Seizure, Lo...	OMIM:242840
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Agenesis of corpus ...	OMIM:253800
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Coxa vara, Hypertonia, Wrist flexion contracture, Low-set, p...	ORPHA:800
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Skeletal muscle atrophy, Ataxia, Bilateral tonic-clonic seizure, Optic neuropa...	OMIM:252010
Joubert Syndrome 32	Molar tooth sign on MRI	OMIM:617757
Eosinophilic Fasciitis	Myositis, Muscular edema, Paresthesia, Weight loss	ORPHA:3165
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Brainstem dysplasia, Occipital myelomeningocele, Hypoplasia of ...	OMIM:213300
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Joubert Syndrome 22	Molar tooth sign on MRI	OMIM:615665
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss, Abnormal eyebrow morphology, Abnormal eyelid morphology	ORPHA:2221
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly	OMIM:619479
Axial Osteomalacia	Renal cyst	OMIM:109130
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test	OMIM:609053
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi...	ORPHA:54595
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Tremor, Rhabdomyolysis, Optic atrophy, ...	OMIM:610505
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Ataxia, Cachexia, Optic atrophy, Spasticity, Hearing impairment	ORPHA:220295
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology, Ventriculomegaly	ORPHA:444072
Rabin-Pappas Syndrome	Hypoplasia of the pons, Hydrocephalus	OMIM:620155
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Anorexia, Spastic hemiparesis, Weight loss, Seizure, Myoclonus, Lethargy, Spasticity	ORPHA:20
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth...	ORPHA:314621
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Intention t...	ORPHA:191
Tetrasomy 12P	Telecanthus, Short stature, Cachexia, Sparse eyebrow, Upslanted palpebral fissure, Ptosis	ORPHA:884
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Refsum Disease, Classic	Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Hypoplasia of the brainstem, Kinked...	OMIM:236670
Reticular Dysgenesis	Failure to thrive, Hearing impairment, Weight loss	ORPHA:33355
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, Conduct...	ORPHA:276621
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Increased CSF lactate, Atrophy/Degeneration affecting the brainstem	ORPHA:565624
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Achondroplasia	Hydrocephalus	ORPHA:15
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Emanuel Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy...	OMIM:616897
Desmosterolosis	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:602398
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,...	OMIM:617260
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Aredyld Syndrome	Low-set, posteriorly rotated ears, Short stature, Cachexia, Upslanted palpebral fissure, Abnormal...	ORPHA:1133
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:264480
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Takayasu Arteritis	Seizure, Anorexia, Weight loss	ORPHA:3287
Mucolipidosis Type Ii	Hip contracture, Epicanthus, Short stature, Diastasis recti, Postnatal growth retardation, Inabil...	ORPHA:576
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Broad-based gait, Bilateral tonic-clonic seizure with generalized ons...	ORPHA:2072
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Poly...	OMIM:210710
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Ventriculomegaly	OMIM:616202
Cronkhite-Canada Syndrome	Anorexia, Cachexia, Tapered finger, Seizure, Aplasia/Hypoplasia of the eyebrow	ORPHA:2930
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Dysphagia, Abnormal skeletal muscle morphology	ORPHA:142
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Hemochromatosis, Type 1	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose...	OMIM:610828
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Myoclonic seizure, Protruding ear, Abnormal repetitive mannerisms, Nail-biting, Pain insensitivit...	OMIM:620330
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Roberts Syndrome	Thrombocytopenia, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight...	ORPHA:79102
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Postaxial hand polydactyly, Hypertonia, Short stature, Cachexia	ORPHA:1389
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Hemiplegia/hemiparesis, Weight loss, Gait disturbance, Dysphagia	ORPHA:183
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c...	OMIM:201475
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of...	ORPHA:391428
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom...	OMIM:615398
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis...	OMIM:615474
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Ataxia, Weight loss, Clumsiness, Gait disturbance, Po...	ORPHA:420741
Dextrocardia	Hydrocephalus	ORPHA:1666
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia	ORPHA:457284
Alveolar Echinococcosis	Ataxia, Weight loss, Hemiparesis, Abnormal skeletal muscle morphology, Seizure, Abnormality of th...	ORPHA:284
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven...	ORPHA:1855
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, Conduct...	ORPHA:29072
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Fg Syndrome Type 1	Hydrocephalus, Small pituitary gland, Ventriculomegaly	ORPHA:93932
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Desmosterolosis	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:35107
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Proximal tubulopathy, Renal cyst	OMIM:602579
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Cachexia, Hearing impairment, Growth delay, Sparse or absent e...	ORPHA:217346
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Trisomy 13	Ventricular septal defect, Abnormality of the ureter, Multiple renal cysts, Atrial septal defect,...	ORPHA:3378
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Decreased muscle mass, Sandal gap, Short stature, Cachexia, Fa...	ORPHA:813
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocepha...	ORPHA:300570
Erdheim-Chester Disease	Polydipsia, Ataxia, Weight loss, Xanthelasma, Abnormal metaphysis morphology, Ptosis	ORPHA:35687
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brain...	ORPHA:572798
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Immunodeficiency 27A	Hypoplasia of the femoral head, Anorexia, Weight loss	OMIM:209950
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Achondroplasia	Brain stem compression, Hydrocephalus	OMIM:100800
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
X-Linked Agammaglobulinemia	Short stature, Sensorineural hearing impairment, Weight loss, Conjunctivitis, Failure to thrive	ORPHA:47
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Renal cyst	ORPHA:79303
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly	ORPHA:261250
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal cerebrospinal fluid...	ORPHA:68
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Thymic Carcinoma	Diaphragmatic paralysis, Palpebral edema, Weight loss	ORPHA:99868
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Decreased thalamic volume	ORPHA:168577
Behçet Disease	Myositis, Ataxia, Anorexia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Seizure, Keratocon...	ORPHA:117
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Secondary Short Bowel Syndrome	Aganglionic megacolon, Weight loss, Growth delay, Failure to thrive, Polyphagia	ORPHA:95427
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Medulloblastoma	Hydrocephalus	ORPHA:616
Cog5-Cdg	Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:263487
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymphocytosis,...	ORPHA:1667
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen...	OMIM:618460
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr...	OMIM:220500
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos...	ORPHA:261494
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Periodic paralysis, Weight loss	OMIM:188580
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Short stature, Anorexia, Abnormal eyelid morphology, Weight loss, Co...	ORPHA:37
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Tubulointerstitial nephritis, Nephrotic syndrome,...	ORPHA:139402
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Mast Cell Sarcoma	Hypoplasia of the ear cartilage, Weight loss	ORPHA:66661
Joubert Syndrome 38	Molar tooth sign on MRI, Ectopic posterior pituitary, Small pituitary gland, Decreased response t...	OMIM:619476
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Mirage Syndrome	Hydrocephalus	OMIM:617053
Follicular Lymphoma	Weight loss	ORPHA:545
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele	OMIM:612291
Benign Recurrent Intrahepatic Cholestasis	Hearing impairment, Anorexia, Weight loss	ORPHA:65682
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hydrocephal...	OMIM:610829
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Joubert Syndrome 37	Molar tooth sign on MRI	OMIM:619185
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multiple renal cyst...	ORPHA:2869
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, As...	ORPHA:99776
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Mohr Syndrome	Hydrocephalus	OMIM:252100
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Cardiomyopathy, Nephro...	OMIM:212065
Short Syndrome	Telecanthus, Severe short stature, Sensorineural hearing impairment, Weight loss, Short palm, Bra...	ORPHA:3163
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology	ORPHA:2822
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula...	ORPHA:2461
Trisomy 18	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Camptodactyly of finger, Congenital...	ORPHA:3380
Campomelia, Cumming Type	Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Renal cyst, Horseshoe kidney	ORPHA:166035
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Decreased response to growth hormone stimulation test	OMIM:616007
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi...	ORPHA:668
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss	ORPHA:312
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Pancreatic cysts, Thrombocytopenia, Hepatosplenomegaly, Anemi...	ORPHA:464329
Leishmaniasis	Anorexia, Weight loss	ORPHA:507
Pfapa Syndrome	Weight loss	ORPHA:42642
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp...	ORPHA:261197
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Anorexia, Weight loss, Seizure, Lethargy, Failure to thrive	ORPHA:199299
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5...	ORPHA:84
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Poems Syndrome	Papilledema, Metaphyseal sclerosis, Weight loss, Clubbing of fingers, Paresthesia, Hyperesthesia	ORPHA:2905
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge	OMIM:101800
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Holoprosencephaly 13, X-Linked	Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve pro...	OMIM:617107
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Clubbing, Clubbing of fingers, Paresthesia	OMIM:175500
Monosomy 18Q	Hydrocephalus, Secondary growth hormone deficiency	ORPHA:1600
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia, Ptosis	ORPHA:1876
Hurler Syndrome	Hydrocephalus	OMIM:607014
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Al Amyloidosis	Weight loss, Macroglossia, Abnormal autonomic nervous system physiology, Dysphagia, Postural hypo...	ORPHA:85443
Majeed Syndrome	Cachexia, Flexion contracture, Weight loss, Failure to thrive, Metaphyseal irregularity	ORPHA:77297
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Lethargy, Weight loss	ORPHA:465508
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Reticulocytosis, Autoimmune hemolytic anemia, Glomerulonephrit...	ORPHA:3261
Malignant Atrophic Papulosis	Seizure, Pain insensitivity, Weight loss, Ptosis	ORPHA:679
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis, Congenital megaureter, A...	ORPHA:369837
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy	ORPHA:552
Full Nf2-Related Schwannomatosis	Myelopathy, Brain stem compression, Hydrocephalus	ORPHA:637
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele	ORPHA:90652
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Hydronephrosis	ORPHA:912
Aicardi-Goutieres Syndrome 7	Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Seizure, Hypertonia, Tetra...	OMIM:615846
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid...	OMIM:146510
H Syndrome	Hydrocephalus	ORPHA:168569
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle...	ORPHA:2020
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:101200
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Idiopathic Bronchiectasis	Clubbing, Cachexia	ORPHA:60033
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph...	ORPHA:79330
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss, Swan neck-like deformities of the fingers, Interphalan...	OMIM:180300
Mosaic Trisomy 1	Ventricular septal defect, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias	ORPHA:1692
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Deafness-Lymphedema-Leukemia Syndrome	Sensorineural hearing impairment, Weight loss	ORPHA:3226
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis	OMIM:614921
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst	OMIM:601539
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia	OMIM:608013
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Long penis, Horseshoe kidney, Polycysti...	OMIM:268300
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V...	OMIM:122470
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Kaposi Sarcoma	Weight loss	ORPHA:33276
Acute Adrenal Insufficiency	Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Seizure, Delayed puberty, Failure t...	ORPHA:95409
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Polycythemia	OMIM:193300
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Poor coordination, Optic atrophy, Failure to thrive, Hearing impa...	OMIM:610965
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Opitz-Kaveggia Syndrome	Hydrocephalus, Partial agenesis of the corpus callosum	OMIM:305450
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopenia, Splenomegaly, Thro...	ORPHA:699
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Finger syndactyly, Short stature, Anorexia, Cachexia, Genu varum, Ptosis	ORPHA:1969
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Aggressive Systemic Mastocytosis	Anorexia, Weight loss	ORPHA:98850
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Anterior hypopituitarism, Pan...	ORPHA:2162
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Proportionate short stature, Weight loss	ORPHA:171876
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pat...	OMIM:618454
Familial Glucocorticoid Deficiency	Anorexia, Hypoglycemic seizures, Tetraplegia, Weight loss, Failure to thrive	ORPHA:361
Yao Syndrome	Keratoconjunctivitis sicca, Weight loss	OMIM:617321
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Chronic Beryllium Disease	Weight loss	ORPHA:133
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss	ORPHA:75566
Cryptococcosis	Hydrocephalus	ORPHA:1546
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic...	ORPHA:464311
Raine Syndrome	Hydrocephalus	OMIM:259775
Eosinophilic Gastroenteritis	Weight loss, Dysphagia	ORPHA:2070
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Occipital meningocele, Agenesis of corpus callosum, Hypothalamic hamartoma	OMIM:277170
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hy...	ORPHA:2538
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Seckel Syndrome	Sandal gap, Short stature, Cachexia, Abnormal earlobe morphology, Clinodactyly of the 5th finger,...	ORPHA:808
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:616300
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
7Q11.23 Microduplication Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:96121
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology, Vesicoureteral ref...	ORPHA:2059
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Simple Cryoglobulinemia	Seizure, Paresthesia, Spontaneous pain sensation, Weight loss	ORPHA:91139
Polyarteritis Nodosa	Weight loss	ORPHA:767
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Ménétrier Disease	Anorexia, Weight loss	ORPHA:2494
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst,...	OMIM:266920
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Weaver Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic...	ORPHA:464306
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Myopathy, Seizure, Macrotia, Broad thumb	ORPHA:109
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callosum	OMIM:300373
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo...	ORPHA:220386
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Cachexia, Sensorineural hearing impairment, Short palm, Hemiplegia, Ptosis	ORPHA:3217
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem	OMIM:253280
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Anorexia, Ptosis	ORPHA:100085
Medullary Thyroid Carcinoma	Weight loss, Dysphagia	ORPHA:1332
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Juvenile Dermatomyositis	Calcinosis, Myositis, Palpebral edema, Weight loss, Dysphagia	ORPHA:93672
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:618820
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ...	ORPHA:116
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Marshall-Smith Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:602535
Lymphoid Interstitial Pneumonia	Keratoconjunctivitis sicca, Failure to thrive, Clubbing, Weight loss	ORPHA:79128
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Genitopatellar Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Wolman Disease	Growth delay, Cachexia	ORPHA:75233
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Weight loss	ORPHA:324964
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Familial Thrombocytosis	Seizure, Paresthesia, Weight loss	ORPHA:71493
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss, Seizure, Delayed puberty, Periodic hypokalemic paresis, Ptosis	ORPHA:91347
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Cardiac rhabdomyoma	OMIM:191100
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Kikuchi-Fujimoto Disease	Weight loss, Palpebral edema, Ataxia, Anorexia	ORPHA:50918
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Weight lo...	ORPHA:79078
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Addison Disease	Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Seizure, Delayed puberty, Failure t...	ORPHA:85138
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Fryns-Smeets-Thiry Syndrome	Cachexia, Patellar aplasia, Arachnodactyly, Short stature	ORPHA:2058
D-Bifunctional Protein Deficiency	Splenomegaly, Hepatomegaly, Renal cyst	OMIM:261515
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Felty Syndrome	Weight loss	ORPHA:47612
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Horseshoe kidn...	ORPHA:2092
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Short stature, Rhabdomyosarcoma, Abnormal eyelid morphology, Cachexia, U...	ORPHA:647
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Spina bifida, Hydrocephalus, Pineal cyst, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Spina bifida, Hydrocephalus, Pineal cyst, ...	ORPHA:363958
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa...	OMIM:270400
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Weight loss	ORPHA:85450
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Absent eyebrow, Nocturnal lagophthalmos, Coxa va...	ORPHA:740
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Hypothalamic hamartoma	ORPHA:2754
Cystinosis, Nephropathic	Skeletal muscle atrophy, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, ...	OMIM:219800
Thymoma	Myositis, Weight loss	ORPHA:99867
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Fryns Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, Renal cyst, Polyspl...	OMIM:229850
Neuroendocrine Tumor Of The Colon	Anorexia, Weight loss	ORPHA:100080
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Bronchial Neuroendocrine Tumor	Anorexia, Weight loss	ORPHA:97287
Primary Intestinal Lymphangiectasia	Growth delay, Weight loss	ORPHA:90362
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Toxic Epidermal Necrolysis	Entropion, Weight loss, Conjunctivitis, Dysphagia, Polydipsia	ORPHA:537
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl...	OMIM:252500
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Polysplenia, Atrial septal defect, L...	OMIM:613610
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Refractory Celiac Disease	Weight loss	ORPHA:398063
Liver Disease, Severe Congenital	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem...	OMIM:619991
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Microsporidiosis	Myositis, Cachexia, Anorexia, Weight loss, Keratoconjunctivitis, Seizure	ORPHA:2552
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Nephroblastoma	Weight loss	ORPHA:654
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Ventricular septal defect, Multicystic k...	ORPHA:373
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
Neuroendocrine Tumor Of The Rectum	Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Weight loss	ORPHA:100082
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	ORPHA:95699
Immunodeficiency 31C	Skeletal muscle atrophy, Short stature, Weight loss, Growth delay, Delayed puberty	OMIM:614162
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Renal cyst	OMIM:615636
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Stevens-Johnson Syndrome	Weight loss, Entropion, Conjunctivitis, Dysphagia	ORPHA:36426
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Sensorineural hearing impairment, Failure to thrive, Dysphagia	ORPHA:1018
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Brucellosis	Small for gestational age, Anorexia, Abnormality of the peripheral nervous system, Chorea, Weight...	ORPHA:1304
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Carney-Stratakis Syndrome	Weight loss, Tinnitus, Hearing impairment, Dysphagia	ORPHA:97286
Pneumocystosis	Weight loss	ORPHA:723
Joubert Syndrome 5	Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle	OMIM:610188
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Mild postnatal growth retardation, Abnormal metata...	ORPHA:85408
Schinzel-Giedion Syndrome	Myeloid leukemia, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnormal h...	ORPHA:798
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Abnormality of th...	ORPHA:991
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Pulmonic sten...	ORPHA:97360
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Renal cyst, Vesicoureteral reflux, Patent foramen ovale	OMIM:616975
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Multiple Myeloma	Spinal cord compression, Paresthesia, Weight loss	ORPHA:29073
Pemphigus Vulgaris	Weight loss	ORPHA:704
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia	ORPHA:14
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Abnormality of extrapyramidal...	ORPHA:100070
Osteogenesis Imperfecta	Brain stem compression, Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Partial agenesis of the corpus callosum, Holoprosencephaly, Molar tooth ...	OMIM:615948
Hermansky-Pudlak Syndrome	Long eyelashes, Anorexia, Weight loss	ORPHA:79430
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Stickler Syndrome	Skeletal muscle atrophy, Epicanthus, Telecanthus, Arachnodactyly, Short stature, Cachexia, Hemipl...	ORPHA:828
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Atrial s...	ORPHA:1052
Cerebrocostomandibular Syndrome	Ventricular septal defect, Ectopic kidney, Horseshoe kidney, Renal cyst, Atrial septal defect	OMIM:117650
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic...	ORPHA:293987
Norrie Disease	Clonus, Cachexia, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Self...	ORPHA:649
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly	OMIM:619475
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney, Abn...	ORPHA:1606
Bohring-Opitz Syndrome	Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly	ORPHA:97297
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Fraser Syndrome 1	Encephalocele, Hydrocephalus, Myelomeningocele	OMIM:219000
Juvenile Polyposis Of Infancy	Short stature, Cachexia, Clubbing of fingers, Low-set ears, Downslanted palpebral fissures, Broad...	ORPHA:79076
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2556
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Aicardi-Goutières Syndrome	Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Micropenis, Chronic lymph...	ORPHA:51
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypoplastic left heart, Aortic valve ste...	ORPHA:2308
Polycythemia Vera	Tinnitus, Weight loss	ORPHA:729
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:365
Sarcoidosis, Susceptibility To, 1	Anorexia, Optic neuropathy, Clubbing, Enlarged lacrimal glands, Weight loss	OMIM:181000
Q Fever	Anorexia, Weight loss	ORPHA:781
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D...	OMIM:312870
Lysosomal Acid Lipase Deficiency	Xanthelasma, Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Multiple Endocrine Neoplasia Type 1	Anorexia, Cranial nerve compression, Atypical absence status epilepticus, Weight loss, Lethargy	ORPHA:652
Marfan Syndrome	Skeletal muscle atrophy, Slender build, Arachnodactyly, Cachexia, Dural ectasia, Attention defici...	ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Wolf-Hirschhorn Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:194190
Hydrolethalus Syndrome 1	Agenesis of corpus callosum, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus	OMIM:236680
Autoimmune Pulmonary Alveolar Proteinosis	Clubbing, Weight loss	ORPHA:747
Anemia, Congenital Dyserythropoietic, Type Iv	Short stature, Weight loss	OMIM:613673
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Neuroendocrine Tumor Of Stomach	Anorexia, Weight loss	ORPHA:100075
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Granulomatosis With Polyangiitis	Conjunctivitis, Weight loss	OMIM:608710
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Weight loss	ORPHA:49041
Nocardiosis	Anorexia, Dacryocystitis, Weight loss, Seizure, Conjunctivitis	ORPHA:31204
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Narrow internal auditory canal, Macrodac...	ORPHA:744
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Failure to thrive in infancy, Cachexia	ORPHA:37042
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Tetrasomy 9P	Renal dysplasia, Pericarditis, Recurrent urinary tract infections, Dextrocardia, Horseshoe kidney...	ORPHA:3310
Peters Plus Syndrome	Anterior hypopituitarism, Spina bifida occulta, Hydrocephalus, Ventriculomegaly	ORPHA:709
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Postinfectious Vasculitis	Weight loss, Anorexia, Abnormality of the peripheral nervous system	ORPHA:48435
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Keratoconjunctivitis sicca, Weight loss	ORPHA:309031
Granulomatosis With Polyangiitis	Hemiplegia, Seizure, Sensorineural hearing impairment, Weight loss	ORPHA:900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly, Agenesis of corpus callosum, Anterior p...	OMIM:619841
Fontaine Progeroid Syndrome	Hydrocephalus	OMIM:612289
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology	ORPHA:171929
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Gallbladder Neuroendocrine Tumor	Anorexia, Weight loss	ORPHA:100086
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum	OMIM:218600
Yunis-Varon Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3472
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Focal Dermal Hypoplasia	Agenesis of corpus callosum, Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Familial Pancreatic Carcinoma	Anorexia, Weight loss	ORPHA:1333
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:607872
Wilson Disease	Face of the giant panda sign	OMIM:277900
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Dermatomyositis	Inflammatory myopathy, Weight loss, Abnormal eyelid morphology	ORPHA:221
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Primary Sclerosing Cholangitis	Generalized amyotrophy, Weight loss	ORPHA:171
Rat-Bite Fever	Tendonitis, Weight loss	ORPHA:31205
Pyomyositis	Myositis, Weight loss	ORPHA:764
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Klatskin Tumor	Weight loss	ORPHA:99978
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Malt Lymphoma	Abnormal nasolacrimal system morphology, Weight loss	ORPHA:52417
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Ppoma	Anorexia, Weight loss	ORPHA:97278
Reactive Arthritis	Conjunctivitis, Weight loss	ORPHA:29207
Sarcoidosis	Facial palsy, Dacryocystitis, Enlarged lacrimal glands, Weight loss, Abnormal conjunctiva morphol...	ORPHA:797
Peters-Plus Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Castleman Disease	Weight loss	ORPHA:160
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Thrombocytopenia	OMIM:256040
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test...	ORPHA:3455
Somatostatinoma	Anorexia, Weight loss	ORPHA:97283
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology	ORPHA:353277
Grfoma	Anorexia, Weight loss	ORPHA:97261
Vipoma	Anorexia, Weight loss	ORPHA:97282
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif...	ORPHA:51608
Glucagonoma	Anorexia, Weight loss	ORPHA:97280
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Chronic Graft Versus Host Disease	Anorexia, Flexion contracture, Weight loss, Keratoconjunctivitis sicca, Dysphagia	ORPHA:99921
Pulmonary Alveolar Microlithiasis	Clubbing of fingers, Stippled calcification in carpal bones, Weight loss	ORPHA:60025
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive, Short stature, Premature fusion of the radial epiphyseal plates	ORPHA:90794
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Anorexia, Weight loss	ORPHA:91500
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ...	ORPHA:199
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Increased body weight, Weight loss, Proximal amyotrophy, Truncal obesity, Abdominal obe...	ORPHA:99889
Igg4-Related Kidney Disease	Dacryocystitis, Weight loss	ORPHA:449395
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Urinary...	ORPHA:261537
Immunodeficiency 82 With Systemic Inflammation	Cholesteatoma, Anorexia, Weight loss	OMIM:619381
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Bicuspid aortic valve, Urinary incontinence, Hypospadias, Abnormali...	ORPHA:2152
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss	ORPHA:3337
Tropical Pancreatitis	Weight loss	ORPHA:103918
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonar...	ORPHA:261552
Pancreatoblastoma	Weight loss	ORPHA:677
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Atrial sept...	OMIM:308205
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Pallister-Killian Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Aortic valve stenosis, Atrial septal defect, ...	OMIM:601803
Pmm2-Cdg	Pericarditis, Proteinuria, Pericardial effusion, Nephrotic syndrome, Multiple renal cysts, Impair...	ORPHA:79318
Goodpasture Syndrome	Weight loss	OMIM:233450

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 Rnd3

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 Rnd3.

No publications found that use IMPC mice or data for Rnd3.

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MGI Allele	Allele Type	Produced
Rnd3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rnd3^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Rnd3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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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Gene: Rnd3 MGI:1921444

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Echo

X-ray

X-ray

Embryo LacZ

Adult LacZ

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Rnd3 mutations

Histopathology

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