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Gene: Col18a1 MGI:88451

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Gene Summary

Name:
collagen, type XVIII, alpha 1
Synonyms:
endostatin

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal retina blood vessel morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 7.19×10-15
abnormal lens morphology Col18a1tm1.1(KOMP)Vlcg HOM   Early adult 1.30×10-05
abnormal retina morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 9.80×10-05
increased circulating free fatty acids level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 1.58×10-09
decreased circulating glucose level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 3.94×10-05
abnormal placement of pupils Col18a1tm1.1(KOMP)Vlcg HOM Early adult 4.37×10-05
abnormal retina vasculature morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 2.79×10-16
hyperactivity Col18a1tm1.1(KOMP)Vlcg HOM   Early adult 3.87×10-05
abnormal iris pigmentation Col18a1tm1.1(KOMP)Vlcg HOM Early adult 7.81×10-16
irregularly shaped pupil Col18a1tm1.1(KOMP)Vlcg HOM Early adult 1.65×10-07
decreased circulating HDL cholesterol level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 5.97×10-06
abnormal optic disk morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 1.44×10-11
increased vertical activity Col18a1tm1.1(KOMP)Vlcg HOM Early adult 1.14×10-08
increased circulating triglyceride level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 2.46×10-06
increased fasting circulating glucose level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 9.82×10-06

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 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%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
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%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
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.

Adult LacZ

LacZ Images Section

40 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Ophthalmoscopy

21 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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Eye Morphology

Images Slit Lamp

23 Images

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Sleep Wake

Wake state (bmp file)

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

6 Images

View images

Human diseases caused by Col18a1 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.

The table below shows human diseases associated to Col18a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... OMIM:267750
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Hydrocephalus, Patent ductus arteriosus, Vesicoureteral re... ORPHA:1571

The table below shows human diseases predicted to be associated to Col18a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Griscelli Syndrome Type 1
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iri... ORPHA:79476
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615938
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... OMIM:261600
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul... OMIM:600348
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615937
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Hydrocephalus, Part... OMIM:220220
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Cerebellar atrophy, Microcephaly, Stage 5 chronic kidney disease, Fo... OMIM:619603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:618709
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance ORPHA:2572
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation OMIM:300982
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation, Mac... OMIM:607091
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, ... OMIM:615771
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microcephaly OMIM:618266
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Aggressive behavior, Abnormality ... ORPHA:97229
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Elevated circulating creatine kinase concentration, Cerebellar vermis a... OMIM:619054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Hypoplasia of the ... OMIM:613154
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Lateral ventricle dilatation, A... OMIM:618330
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Bicuspid aortic valve, Ventr... OMIM:617751
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Vascular dilatation, Hydrocephalus, Horsesh... OMIM:602200
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration, Central heterochromia OMIM:275400
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy OMIM:311050
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Chorioretinal coloboma ORPHA:2732
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior ORPHA:75858
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly ORPHA:99966
Woolly Hair
Hypopigmentation of hair, Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
3-Methylglutaconic Aciduria Type 4
Cataract, Hypoglycemia, Iris hypopigmentation ORPHA:67048
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... OMIM:615516
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Microcephaly, Secundum atrial septal defect, Patent ductus arteri... OMIM:617397
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug... ORPHA:411515
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly OMIM:614019
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Microcephaly, Stage 5 chronic kidne... OMIM:619609
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Lateral ventricle dilatation, Microcephaly OMIM:617668
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus... ORPHA:79243
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Dysdiadochokinesis, Optic atrophy OMIM:108650
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Ceroid Lipofuscinosis, Neuronal, 9
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia OMIM:609055
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Dilation of Virchow-Robin spaces, Microcephaly, Partial agenesis of the corpus callosum, Lateral ... OMIM:619517
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:618348
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Martsolf Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619420
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Methionine Malabsorption Syndrome
Aminoaciduria, White hair, Blue irides, Positive ferric chloride test OMIM:250900
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Microcephaly ORPHA:77299
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Micro... OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Type II diabetes... OMIM:614296
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Blue irides, Hypopigmented skin pa... OMIM:277580
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Macrocephaly, Tetralogy of Fallot ORPHA:250994
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Masa Syndrome
Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Latera... OMIM:600721
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Elevated... ORPHA:370959
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Retinal arteriolar constric... OMIM:249660
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc... OMIM:608611
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,... OMIM:612863
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of ... OMIM:619244
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Ectopia lentis OMIM:238700
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Pontocerebellar Hypoplasia, Type 1A
Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatatio... OMIM:607596
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5 chronic kidney disease, L... OMIM:608629
Spastic Paraplegia 43, Autosomal Recessive
Loss of ambulation, Optic atrophy, Gait disturbance OMIM:615043
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Arrhythmia, Cerebellar hypoplasia, Microcephaly OMIM:620208
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... OMIM:618736
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance OMIM:616859
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Microcephaly, Stage 5 chronic kidne... OMIM:617729
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Renal insufficiency, Ventriculomegaly, Hypospadias, Cerebellar vermis hy... ORPHA:397715
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cere... OMIM:618291
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Cach Syndrome
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Nonketotic h... ORPHA:135
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Cataract, Optic atrophy OMIM:620312
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal circulating phytani... ORPHA:247815
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis ... ORPHA:300573
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Microcephaly OMIM:619725
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... OMIM:614831
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Lateral ventricle dilatation, ... ORPHA:3078
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Microcephaly OMIM:618890
Alg2-Cdg
Lateral ventricle dilatation, Microcephaly ORPHA:79326
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Microcephaly, Cryptorchidism, Hydrocephalus, Micropenis, Dilated third ven... ORPHA:500055
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elevated circulating creatine kinase concentratio... ORPHA:370022
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Decreased retinol-binding pr... OMIM:615147
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diff... OMIM:610717
Edinburgh Malformation Syndrome
Hydrocephalus, Neonatal hyperbilirubinemia OMIM:129850
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Macrocephaly, Ventriculomegaly ORPHA:2185
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Renal tubular acidosis, Lat... OMIM:619575
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasi... OMIM:615574
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Elevated circulating creatinine concentration, Hyper... OMIM:619111
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Usher Syndrome Type 1
Cataract, Ataxia, Iris hypopigmentation ORPHA:231169
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Hyposerinemia, Lateral ventricle dilatation, Hyperglycinemia, Prima... ORPHA:284417
Craniosynostosis 6
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... OMIM:616602
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral v... ORPHA:544488
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Subependymal cysts, Lateral ventricle dilatation, Bradycardia, ... OMIM:610015
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation ORPHA:177910
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypop... OMIM:614219
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly OMIM:619278
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Abnormal localization of kidney, Mitral regurgitation, ... ORPHA:83473
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Microcephaly, Lateral ventricle dilatation, Male urethral... ORPHA:464738
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia OMIM:618970
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum,... ORPHA:171680
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Microcephaly, Methylmalonic acidu... OMIM:614105
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Cerebell... OMIM:614175
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, H... OMIM:617967
Developmental And Epileptic Encephalopathy 36
Macrocephaly, Hydrocephalus, Abnormal bleeding, Microcephaly OMIM:300884
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal de... OMIM:204200
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Secondary microcephaly, Aortic valve stenosis OMIM:615599
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Onychotillom... OMIM:182290
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventricul... ORPHA:324416
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Cerebellar atrophy, Renal insufficiency, Ventriculomegaly, Proteinur... OMIM:251300
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Infe... OMIM:304100
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Hypopigmented skin patches, Irregular hy... ORPHA:2885
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Paganini-Miozzo Syndrome
Hyperalaninemia, Lateral ventricle dilatation, Urinary incontinence OMIM:301025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Hyp... OMIM:204000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosit... OMIM:175780
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Optic atrophy, Dysphagia, Sensory axonal neuropathy ORPHA:329314
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Microcephaly ORPHA:398189
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coa... ORPHA:261183
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation, Macrocephaly OMIM:256850
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5... OMIM:610688
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Polyphagia OMIM:617885
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Blue irides, Red hair, Fair hair OMIM:614613
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Renal cyst OMIM:614870
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Chiari type I malformation, Abnormality of the urinary system, Macro... ORPHA:401986
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia, Conjunctivitis OMIM:603552
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentration, Microcephal... OMIM:619955
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Microcephaly OMIM:615716
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Glutaric Acidemia I
Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Elevated... OMIM:231670
Nephronophthisis 18
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... OMIM:615862
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, G... ORPHA:411511
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Abnormal cerebellum morphology, Hydrocephalus, Cere... ORPHA:97339
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Hydrocephalus, Macrocephaly, Macroorchidism OMIM:300886
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... OMIM:618606
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Angelman Syndrome
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Ina... ORPHA:72
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, H... OMIM:613155
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... ORPHA:79477
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Urinary incontinence OMIM:221770
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tubulointersti... ORPHA:488627
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia OMIM:610951
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Inappropriate laughter, Gait ataxia OMIM:619323
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Microcephaly ORPHA:85290
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Hyperpigmentation of the skin, Ata... OMIM:231550
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Difficulty walking ORPHA:320360
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... OMIM:619389
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Nephronophthisis 11
Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Nephronophthi... OMIM:613550
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypo... ORPHA:2481
Werner Syndrome
Diabetes mellitus, Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia, Retinal degeneration OMIM:277700
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis atrophy ORPHA:1170
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... OMIM:619487
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Polydipsia, Rod-co... OMIM:615986
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Slc35A2-Cdg
Cerebellar atrophy, Increased circulating thyroglobulin level, Microcephaly, Abnormal renal morph... ORPHA:356961
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Alexander Disease
Microcoria OMIM:203450
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels OMIM:614504
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Zaki Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Renal agenesis, Microcephaly, Patent duct... OMIM:619648
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... OMIM:193510
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Macrocephaly ORPHA:420179
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly ORPHA:208447
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Familial Dysautonomia
Hyponatremia, Renal insufficiency, Corneal opacity, Abnormal pupil morphology, Corneal erosion, O... ORPHA:1764
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia ORPHA:363400
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly ORPHA:1931
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis OMIM:618914
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Abnormal bleeding, Cerebellar vermis hypoplasia, Dysplastic corpus call... ORPHA:357058
Kleeblattschaedel
Hydrocephalus OMIM:148800
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Microcephaly OMIM:619470
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Chiari malformati... ORPHA:261102
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat... ORPHA:2969
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinu... OMIM:616034
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Tong... ORPHA:98794
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degenera... OMIM:520000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentration, Hypoplasia of ... OMIM:613153
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Primary microcephaly, Hyperalaninemia... OMIM:619847
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... OMIM:611584
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Gl... ORPHA:411590
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Pontocerebellar atrophy OMIM:617854
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy ORPHA:251347
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebellar h... OMIM:619302
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Vascular dilatation, Hydrocephalus, Tubular lumin... OMIM:219730
Galloway-Mowat Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Primary microcep... OMIM:617731
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... OMIM:218350
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:1532
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Dilated third ventricle, Urinary incontinence, Abnormal cerebrospinal fluid m... ORPHA:314404
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... OMIM:614877
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Craniotelencephalic Dysplasia
Microcephaly, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Agenesis of corpus cal... ORPHA:1528
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased... OMIM:608836
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula... OMIM:614077
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Progressive macrocephaly, Nephroblastoma, Ventriculomegaly OMIM:602501
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Secondary microcephaly ORPHA:397951
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... OMIM:619172
Tonne-Kalscheuer Syndrome
Broad-based gait, Aggressive behavior, Blue irides, Self-injurious behavior, Dysphagia OMIM:300978
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, Spastic ... OMIM:270800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Cerebellar hypo... OMIM:217090
Free Sialic Acid Storage Disease
Ataxia, Abnormality of skin pigmentation, Athetosis, Gait disturbance, Iris hypopigmentation ORPHA:834
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior OMIM:300983
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Cerebellar atrophy, Pericarditis, Cerebellar vermis hypoplasia, Protein... OMIM:212065
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hemisphere hypop... OMIM:615191
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Secondary microcephaly, Cerebellar hypoplasia, Macrocephaly OMIM:618174
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Unilateral r... OMIM:609757
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Progressive microcephaly, Ventri... OMIM:610333
Cardiac Valvular Dysplasia 1
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Tricuspid ... OMIM:212093
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia OMIM:613877
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... ORPHA:98795
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Attention deficit hyperactivity disorder OMIM:618223
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia ORPHA:280356
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Partial albinism, Blue irides, Hypopigmented skin patches, Premature grayi... OMIM:148820
3C Syndrome
Atrial septal defect, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defe... ORPHA:7
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... OMIM:604484
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarct... ORPHA:1692
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ventricular septal de... OMIM:614424
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Optic atrophy, Premature graying... ORPHA:33445
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Abnormal cerebellum morphology, Cryptorchidism, Increased CSF lactate, Lateral vent... ORPHA:565624
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... OMIM:602088
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Microcornea, Self-injurious behavior, Gait disturbance,... ORPHA:819
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... OMIM:304050
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cerebellar at... OMIM:164500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dysphagia OMIM:271930
Griscelli Syndrome
Ataxia, Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Abno... ORPHA:381
Albinism, Ocular, Type I
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus, Microcephaly OMIM:618302
Congenital Toxoplasmosis
Hydrocephalus, Cardiomegaly, Ventriculomegaly, Microcephaly ORPHA:858
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Pallister-Hall-Like Syndrome
Occipital encephalocele, Microcephaly, Hydrocephalus, Chiari type I malformation, Hypothalamic ha... OMIM:241800
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Hydronephrosis ORPHA:251046
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology ORPHA:370091
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... OMIM:611134
Atypical Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior, ... ORPHA:216873
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Mitral valve prolapse ORPHA:2183
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly,... OMIM:611209
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Hy... OMIM:220210
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Hyperlipidemia, Joint h... ORPHA:35909
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Microcephaly, Cryptorc... ORPHA:1926
Biemond Syndrome Type 2
Hydrocephalus, Hypospadias ORPHA:141333
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Secondary microcephaly ORPHA:2148
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Bilateral cryptorchidism, Epis... ORPHA:434179
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... ORPHA:233
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale OMIM:620075
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Progressive macrocephaly,... ORPHA:25
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Macrocephaly, Agenesis of ... OMIM:175700
Snakebite Envenomation
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... ORPHA:449285
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Heterochromia iridis ORPHA:90646
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia ORPHA:104
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Fair hair, Hypopig... OMIM:105830
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Distal Deletion 10Q
Atrial septal defect, Microcephaly, Patent ductus arteriosus, Functional abnormality of the bladd... ORPHA:96148
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Ataxia, Dysphagia ORPHA:1171
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketotic hypoglycemia ORPHA:26792
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Cerebellar atrophy, Urinary incontinence, Urinary bladder sphincter dys... OMIM:183090
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Infantile Refsum Disease
Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration, ... ORPHA:772
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Inability to walk, Optic atrophy OMIM:618768
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Cog5-Cdg
Cerebellar atrophy, Neurogenic bladder, Urinary incontinence, Microcephaly, Cryptorchidism, Later... ORPHA:263487
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Atrial septal defect, Cerebellar vermis hypoplasia, Microcephaly, Paten... OMIM:619869
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Peroxisome Biogenesis Disorder 3B
Retinal dystrophy, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Rod-con... OMIM:266510
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity ORPHA:363717
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Unsteady gait, Blue irides, Dysmetria, Cafe-au-lait spot, Self-mutilation ORPHA:3041
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Macrocephaly, Interru... ORPHA:2396
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Cardiomegaly, H... ORPHA:228308
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-r... OMIM:203800
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dila... ORPHA:293725
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Infantile Sialic Acid Storage Disease
Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Hydrocephalus, Nephrotic s... OMIM:269920
Noonan Syndrome 14
Aortic regurgitation, Cryptorchidism, Mitral valve prolapse, Lateral ventricle dilatation, Pulmon... OMIM:619745
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... OMIM:267750
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... OMIM:311070
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus, Macrocephaly ORPHA:1516
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Holoprosenceph... ORPHA:93274
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrop... OMIM:612674
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels OMIM:617082
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Cardiomyopathy, Later... ORPHA:572798
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Wyburn-Mason Syndrome
Retinal vascular malformation, Iris hypopigmentation ORPHA:53719
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... ORPHA:300570
Neural Tube Defects, Susceptibility To
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
1Q44 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Horseshoe kidney, Abnormal cardiac septum morphology, Biparietal nar... ORPHA:238769
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po... ORPHA:912
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle di... ORPHA:457279
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Severe temper tantrums OMIM:619052
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Secondary micr... OMIM:619306
Prune1-Related Neurological Syndrome
Cataract, Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, R... ORPHA:544469
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Optic atrophy, ... ORPHA:96180
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly OMIM:307000
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma ORPHA:649929
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... ORPHA:136
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Piebald Trait
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... OMIM:172800
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Enuresis ORPHA:289483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Hypoplasia of the pons,... OMIM:615181
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Nephrolithiasis, Mydriasis OMIM:619365
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Alagille Syndrome
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Abnormality of the ureter, Nephrotic s... ORPHA:52
Machado-Joseph Disease
Dilated fourth ventricle, Urinary bladder sphincter dysfunction, Cerebellar atrophy OMIM:109150
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Mucolipidosis Iv
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity OMIM:252650
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Opacificati... OMIM:214100
Usher Syndrome Type 2
Cataract, Ataxia, Iris hypopigmentation ORPHA:231178
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Seckel Syndrome 10
Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... OMIM:617253
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Piebaldism
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Piebaldi... ORPHA:2884
Merrf
Optic atrophy, Ataxia ORPHA:551
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroide... ORPHA:2719
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hemangioblastoma
Cerebellar edema, Neurogenic bladder, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis ORPHA:820
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus call... OMIM:617478
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Cryp... ORPHA:261337
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polyphagia, Orthosta... ORPHA:66628
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy ORPHA:276241
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia ORPHA:1186
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Decreased serum creat... ORPHA:54057
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Macrocephaly ORPHA:380
Facial Spasm
Anisocoria OMIM:134300
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Gait ataxia OMIM:620221
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma ORPHA:1791
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Urinary bladder sphincter dysfunction, Olivopontocerebellar atrophy, Sp... OMIM:164400
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus OMIM:614171
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... OMIM:609033
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation OMIM:618241
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Arteriovenous ... ORPHA:60040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... OMIM:613150
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Tetrasomy 15Q26
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal... OMIM:614846
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... OMIM:615075
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Microceph... ORPHA:90308
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polyphagia, Orthosta... ORPHA:179494
Hogue-Janssen Syndrome 2
Unilateral renal agenesis, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculome... OMIM:616362
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology OMIM:276950
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... ORPHA:79430
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Macrocephaly, Atri... OMIM:603387
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Cerebellar vermis hypoplasia, Abnormality of the kidney, Hydrocephalus, Tu... ORPHA:459061
Cln3 Disease
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Pigmentary retinopa... ORPHA:228346
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Ventricular septal defect, Microcephaly, Broad skull, Hydrocephalus, Patent ductus a... ORPHA:163979
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebe... OMIM:243910
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Abnormal bleeding, Ventricular septal defect, Elevated circulating creatine k... OMIM:614576
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Pseudotrisomy 13 Syndrome
Encephalocele, Renal agenesis, Ventricular septal defect, Dextrocardia, Microcephaly, Complete at... OMIM:264480
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... ORPHA:163961
Familial Multiple Lipomatosis
Hyperlipidemia, Abnormal tricuspid valve morphology, Ventriculomegaly, Macrocephaly ORPHA:199276
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Hydrocephalus, Chronic kidney disease, N... OMIM:615630
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia OMIM:236792
Noonan Syndrome 13
Aggressive behavior, Blue irides, Head-banging, Multiple lentigines, Attention deficit hyperactiv... OMIM:619087
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Chediak-Higashi Syndrome
Hypopigmentation of hair, Ataxia, Decreased nerve conduction velocity, Silver-gray hair, Ocular a... OMIM:214500
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Dysmetria, Astigmatism, Loss of ambulation, Spastic gait OMIM:616680
Leber Congenital Amaurosis 14
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Renal hypop... ORPHA:171839
Thanatophoric Dysplasia
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Macrocephaly, Atrial septal d... ORPHA:2655
Triple A Syndrome
Generalized hyperpigmentation, Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:609053
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... ORPHA:412
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Chylomicron Retention Disease
Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia ORPHA:71
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Lissencephaly 8
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... ORPHA:280679
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Optic nerve dysplasia, Optic atrophy, ... OMIM:614866
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy ORPHA:276244
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... ORPHA:31825
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplasia OMIM:300049
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Cryptorchidism, Lateral ventricle dilatation, Ureteropelvic j... OMIM:617557
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:157
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Atrial sept... OMIM:615219
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum... ORPHA:2260
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect OMIM:617306
4H Leukodystrophy
Cataract, Ataxia, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Dysphagia ORPHA:289494
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hydrocephalus, Pat... OMIM:617053
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Dysphagia ORPHA:1177
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Microcephaly ORPHA:447788
Leukoencephalopathy With Vanishing White Matter 4
Unsteady gait, Optic atrophy OMIM:620314
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Microcephaly, Cryptorchidism, Hydrocephalus... ORPHA:85284
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Hematur... ORPHA:853
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hypomethioninemia, Microcephaly, Hemolytic-uremic syndrome, Hydrocephalus, Hyperh... ORPHA:2169
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia, Microcephaly OMIM:618731
Holoprosencephaly 14
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Aqueductal stenosis, Alobar holopros... OMIM:619895
Trisomy 1Q
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent du... ORPHA:261344
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation, A... OMIM:225790
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Microcephaly, Lateral ventricle di... OMIM:619229
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... ORPHA:254886
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysphagia, Loss of am... ORPHA:391428
Meckel Syndrome, Type 1
Occipital encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation, Cryptorchidism, ... OMIM:249000
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance ORPHA:588
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Revesz Syndrome
Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria OMIM:268130
Galactokinase Deficiency
Cataract, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Nuclear catara... ORPHA:79237
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia OMIM:619425
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Atrial septal defect, Bilateral fetal pyelectasis, Microcephaly, Pa... OMIM:300868
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Hypocalcemic seizures, Increased head circumference, Lateral ventricle dilatation OMIM:612301
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Alagille Syndrome 1
Cataract, Hypertriglyceridemia, Band keratopathy, Multiple small medullary renal cysts, Abnormal ... OMIM:118450
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma ORPHA:163937
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Glycosuria, ... OMIM:268315
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephalus, Chiari... OMIM:620157
Galloway-Mowat Syndrome 8
Proteinuria, Microcephaly, Abnormal cerebellum morphology, Stage 5 chronic kidney disease, Hematu... OMIM:618349
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydrocephalus, Me... ORPHA:1908
Temple Syndrome
Relative macrocephaly, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimul... ORPHA:254516
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morphology, Anisocoria, St... ORPHA:90658
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Patent ductus arteriosus, Re... OMIM:617260
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic atrophy, Difficu... ORPHA:401768
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, He... ORPHA:99147
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Chédiak-Higashi Syndrome
Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia... ORPHA:167
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cerebellar ve... OMIM:619479
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ... ORPHA:91350
Rhombencephalosynapsis
Abnormal dentate nucleus morphology, Fusion of the cerebellar hemispheres, Agenesis of cerebellar... ORPHA:59315
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... OMIM:603471
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Progressiv... OMIM:300749
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... ORPHA:2334
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia ORPHA:3151
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Macrocephaly OMIM:109120
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated circulating alpha... OMIM:613095
Trichinellosis
Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnormal optic ne... ORPHA:863
Leukodystrophy, Hypomyelinating, 22
Inability to walk, Optic disc pallor, Astigmatism OMIM:619328
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... ORPHA:464321
Emanuel Syndrome
Recurrent urinary tract infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defe... OMIM:609029
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Mitral valve prolapse, Nephrotic s... OMIM:601776
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Neutral Lipid Storage Disease With Ichthyosis
Subcapsular cataract, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Microc... ORPHA:79282
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developm... OMIM:617183
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... ORPHA:644
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia ORPHA:79085
Developmental And Epileptic Encephalopathy 93
Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance OMIM:618012
10Q22.3Q23.3 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Chiari malformation, Cerebellar hypoplasia, Tricuspid val... ORPHA:276413
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att... ORPHA:216866
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Weaver Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Cerebel... OMIM:277590
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... OMIM:617302
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, White hair, Hypo... ORPHA:894
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of t... OMIM:617542
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Optic Atrophy 6
Optic atrophy OMIM:258500
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... ORPHA:528
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... OMIM:300845
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Microcephaly, Epispadias, Hydroc... ORPHA:2556
Wound Botulism
Urinary retention, Mydriasis ORPHA:178475
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Miller Fisher Syndrome
Ataxia, Facial palsy, Anisocoria, Dysphagia, Mydriasis ORPHA:98919
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Colp... OMIM:618619
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Spastic Paraplegia 2, X-Linked
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria OMIM:312920
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Iatrogenic Botulism
Urinary retention, Mydriasis ORPHA:254509
Wolfram Syndrome 1
Cataract, Ataxia, Diabetes mellitus, Optic atrophy, Pigmentary retinopathy, Dysphagia OMIM:222300
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Optic atrophy, Abnormal retinal n... ORPHA:1215
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Reti... ORPHA:899
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Dysphagia OMIM:619527
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia OMIM:613672
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypospadias, Hypopigmented skin patches ORPHA:1784
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Inability to walk, Cataract, Optic atrophy OMIM:617481
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin... ORPHA:5
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Cataract, Hypertriglyceridemia, Impaired glucose tolerance, Insulin resi... OMIM:606721
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva... ORPHA:79
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:616355
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Leukocoria, Multiple cafe-au-lait spots, Displa... ORPHA:1556
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus, Pelvic kidney, Microcephaly OMIM:617244
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Ataxia, Diabetes mellitus, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysp... ORPHA:98673
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, Hydrocephalus, Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubine... OMIM:614886
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colo... OMIM:235730
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, C... OMIM:613001
Potocki-Lupski Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia OMIM:610883
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... OMIM:617166
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
47,Xyy Syndrome
Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocepha... ORPHA:8
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis, Cryptorchidism ORPHA:2701
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria OMIM:605259
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... OMIM:619260
Leber Optic Atrophy And Dystonia
Athetosis, Optic atrophy, Leber optic atrophy, Dysphagia OMIM:500001
Sarcosinemia
Hypersarcosinemia, Optic atrophy, Ataxia ORPHA:3129
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu... ORPHA:94080
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Hyperal... ORPHA:254881
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Inability to walk, Optic atrophy, Hyperammonemia, Hyperalaninemia OMIM:614739
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... OMIM:620300
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Behr Syndrome
Ataxia, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Dysphagia, Gait distur... OMIM:210000
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma... ORPHA:2184
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Microcephaly OMIM:300558
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of hair pigment... OMIM:618156
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Optic atrophy, Retinal dystrophy, Anorexia ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebellar atrophy, Ventriculomegaly OMIM:616430
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Hypohomocysteinemia, Hyp... OMIM:617744
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Hyperalaninemia OMIM:245349
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalc... ORPHA:534
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms, Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia OMIM:615381
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Tricuspid regurgitation, Lateral ventric... OMIM:263520
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Dextrocardi... OMIM:620305
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Familial Chylomicronemia Syndrome
Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concen... ORPHA:444490
B4Galt1-Cdg
Abnormal bleeding, Elevated circulating creatine kinase concentration, Hydrocephalus, Decreased L... ORPHA:79332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Hydrocephalus, ... OMIM:616538
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Insulin-resistant diabetes mellitus, ... ORPHA:79083
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait ORPHA:99013
Inhalational Botulism
Urinary retention, Mydriasis ORPHA:254504
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Ocular albinism, Albinism OMIM:614073
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu... OMIM:314390
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... ORPHA:98793
Intestinal Botulism
Mydriasis ORPHA:178481
Relapsing Fever
Abnormal bleeding, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration,... ORPHA:91547
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Paten... ORPHA:77298
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... ORPHA:177901
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Microcephaly, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Stroke, Ho... ORPHA:395
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte... ORPHA:137667
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Broad-based gait, Cataract, Aganglionic megacolon, Inability to walk, Abnormal pupi... ORPHA:261552
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac se... ORPHA:3376
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract ORPHA:45358
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Macrocephaly, Ventric... OMIM:613603
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... OMIM:251000
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy, Blue irides, Melanocytic nevus OMIM:101800
Joubert Syndrome 28
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:617121
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Noonan Syndrome 3
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Chiar... OMIM:609942
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... OMIM:610743
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Micro... ORPHA:96170
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... ORPHA:98754
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Abnormality of the kidney, Decreased response to growth hormone st... ORPHA:177907
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Vesicovaginal fistula, Hypertension, Lateral ventricle dilatation, Cerebellar hypop... OMIM:300896
Trisomy 17P
Hypoplasia of penis, Urethral valve, Microcephaly, Hydrocephalus, Urethral stenosis, Patent ductu... ORPHA:261290
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... OMIM:618886
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Conjugated hyperbilirubinemia, Secundum atria... OMIM:619534
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Horseshoe kidney, Endocardial fibroelastosis ORPHA:1973
Lipe-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati... ORPHA:435660
Bainbridge-Ropers Syndrome
Cryptorchidism, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Microcephaly OMIM:615485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Microcephaly, Hydrocephalus, Cerebellar hypop... OMIM:615249
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Infant Botulism
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Botulism
Urinary retention, Mydriasis ORPHA:1267
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Ataxia, Optic atrophy, Spotty hyperpigmentation, Rod-cone dystrophy ORPHA:324737
Fanconi Anemia, Complementation Group B
Renal agenesis, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Coarctation o... OMIM:300514
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Patent foramen ovale, Cryptorchidism, Ebst... ORPHA:506358
Distal Triplication 15Q
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Dilatation of the renal pelvi... ORPHA:314588
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction ORPHA:137817
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... OMIM:614388
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... ORPHA:398124
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal ... ORPHA:2075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Orthostatic hypotension ORPHA:2822
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrocephalus, Pericarditis ORPHA:163596
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... ORPHA:496790
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Hermansky-Pudlak Syndrome 6
Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin OMIM:614075
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Enuresis, Syncope, Macrocephaly, Ventriculomegaly OMIM:616260
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Spondylocostal Dysostosis 4, Autosomal Recessive
Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextroca... OMIM:613686
Medulloblastoma
Cerebellar calcifications, Cerebellar hemorrhage, Hydrocephalus, Progressive macrocephaly, Cerebe... ORPHA:616
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Optic atrophy, Retinal degeneration OMIM:249270
Prader-Willi Syndrome
Hypopigmentation of hair, Polyphagia, Hyperinsulinemia, Self-injurious behavior, Type II diabetes... OMIM:176270
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Micro... OMIM:617822
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... ORPHA:401777
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Superficial Siderosis
Cerebellar atrophy, Enlarged sylvian cistern, Abnormal bleeding, Increased CSF protein concentrat... ORPHA:247245
Desmosterolosis
Relative macrocephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Pate... OMIM:602398
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Renal cyst, Atrial septal ... OMIM:210710
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Secondary mic... OMIM:612938
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Macrocephaly, Hydrocephalus, Microcephaly OMIM:613330
Foodborne Botulism
Urinary retention, Mydriasis ORPHA:228371
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chorioretinal coloboma, Peters an... ORPHA:494344
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... ORPHA:98855
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia OMIM:614707
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Broad-based gait, A... ORPHA:14
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Micr... OMIM:607872
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Elevated circulating creatinine con... ORPHA:247691
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia ORPHA:2348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Isolated Atp Synthase Deficiency
Cataract, Ataxia, Optic atrophy, Hyperammonemia, Hyperalaninemia, Rod-cone dystrophy ORPHA:254913
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Macrocephaly, Atrial septal d... ORPHA:1860
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Chiari type I malformation, Hypocalcemia, Cerebellar hypoplasia, Macrocephaly, Dan... OMIM:618476
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Koolen-De Vries Syndrome
Hyperactivity, Cataract, Impulsivity, Fair hair, Iris hypopigmentation OMIM:610443
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Optic atrophy, Dysmetria, Athe... OMIM:617710
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Baraitser-Winter Cerebrofrontofacial Syndrome
Optic disc coloboma, Microcornea, Retinoschisis, Heterochromia iridis, Iris coloboma ORPHA:2995
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Hypocholesterolemia, Developmental cataract OMIM:618810
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Mosaic Trisomy 20
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Dysplastic tricuspid valve,... ORPHA:1724
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Agenesis of cerebellar verm... OMIM:608091
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Propionic Acidemia
Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyperglycinuria, Hyperammonemia... OMIM:606054
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal renal morphology, Abn... ORPHA:1666
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Nephroblastoma, Microcephaly, Crypto... OMIM:257300
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia OMIM:616204
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Ventriculomegaly, Decreased response to growth hormone stimul... OMIM:615873
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Abnormal cardiac ventricle morphology, Patent... ORPHA:2306
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... OMIM:274150
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:276621
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co... ORPHA:99901
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation ORPHA:93262
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Subarachnoid hemorrhage, A... ORPHA:2356
Noonan Syndrome 4
Ureteral duplication, Blue irides, Hydronephrosis OMIM:610733
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Microcephaly, Secundum atrial septal defect,... ORPHA:1600
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Tangier Disease
Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, Facial diplegia, Hypocholest... ORPHA:31150
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, At... ORPHA:636
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... ORPHA:98863
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherr... ORPHA:93399
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... ORPHA:98853
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Ureteral agenesis, Abnormality of th... ORPHA:2437
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus ORPHA:542310
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Relative macrocephaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricula... ORPHA:466791
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Xanthelasma, Abnormal circulating cholesterol concentration,... OMIM:213700
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
H Syndrome
Hypertriglyceridemia, Micropenis, Corneal arcus, Enlarged kidney, Hyperpigmentation of the skin ORPHA:168569
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Albers-Schönberg Osteopetrosis
Hydrocephalus, Hypocalcemia, Macrocephaly ORPHA:53
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... ORPHA:2479
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior ORPHA:369939
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... ORPHA:289601
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia ORPHA:99014
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Inappropriate la... ORPHA:363686
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Optic atrophy, Choreoathetosis, Pigmen... ORPHA:157850
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundum atrial septal defect, Crypt... OMIM:619951
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... OMIM:181270
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... OMIM:615287
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Basal Cell Nevus Syndrome 2
Hydrocephalus, Macrocephaly OMIM:620343
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale... ORPHA:251274
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Obs... ORPHA:168491
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narro... ORPHA:220497
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Hyperammonemia, Hypoglycemia OMIM:614702
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:310400
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:435651
Primary Ciliary Dyskinesia
Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Situ... ORPHA:244
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malf... OMIM:304340
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia, Bruxism ORPHA:289522
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... ORPHA:49566
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... OMIM:214800
Pentalogy Of Cantrell
Encephalocele, Renal agenesis, Hypospadias, Abnormal pericardium morphology, Ventricular septal d... ORPHA:1335
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... OMIM:617866
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, Ureteral triplication, Hydronephr... OMIM:104350
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Difficulty walking, Attention deficit hyperact... ORPHA:442835
Fg Syndrome Type 1
Hypospadias, Abnormal cerebellum morphology, Hydrocephalus, Cryptorchidism, Mitral valve prolapse... ORPHA:93932
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Congenital Sialidosis Type 2
Abnormal EKG, Abnormality of the kidney, Hydrocephalus, Abnormal heart morphology, Telangiectasia... ORPHA:93400
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Truncal a... OMIM:601338
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Low plasma citrulline, Optic atrophy, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... ORPHA:2255
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus ORPHA:2801
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Progressive microcephaly, Cerebellar hypop... OMIM:614969
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Macrocephaly OMIM:300863
Acquired Generalized Lipodystrophy
Generalized hyperpigmentation, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabet... ORPHA:79086
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy ORPHA:254343
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:619833
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Optic atrophy, Hyperammonemia, Dysphagia, Loss of ambulation OMIM:618253
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cereb... ORPHA:1812
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Macrocephaly ORPHA:2180
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype... ORPHA:401866
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale, Hydrocephalus, Patent ductus arteriosus, Telangi... OMIM:612582
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Sterile pyur... ORPHA:91500
3-Methylglutaconic Aciduria, Type I
Athetosis, Optic atrophy, Self-mutilation, Ataxia OMIM:250950
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Elevated... OMIM:615673
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... OMIM:609136
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... ORPHA:363429
Nail-Patella Syndrome
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu... OMIM:161200
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... ORPHA:2715
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narro... ORPHA:2318
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Dilated cardiom... OMIM:253800
Waardenburg Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of skin ... ORPHA:3440
Oxoglutaric Aciduria
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation OMIM:620089
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Patent ductus arteri... OMIM:618460
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... ORPHA:540
Marinesco-Sjögren Syndrome
Cataract, Optic atrophy, Ataxia, Abnormal circulating creatine kinase concentration ORPHA:559
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Atrial septal defect, Transient ischemic attack, Bilateral renal dysplasia... ORPHA:500150
Nail-Patella Syndrome
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les... ORPHA:2614
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Rabin-Pappas Syndrome
Hyponatremia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephalus, Chiari... OMIM:620155
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve, Renal agenesis, Unilateral renal agenesis OMIM:608980
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ataxia, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy OMIM:618547
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Microcephaly, Hemoly... OMIM:277400
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentration, Perimemb... OMIM:608104
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... ORPHA:99828
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Microcephaly... ORPHA:391641
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cataract, Optic atrophy, Dysphagia OMIM:612379
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Hyp... OMIM:613327
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Astigmatism, C... ORPHA:369837
Crouzon Syndrome
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia ORPHA:207
Cri-Du-Chat Syndrome
Hyperactivity, Cataract, Aggressive behavior, Optic atrophy, Premature graying of hair, Difficult... OMIM:123450
Developmental And Epileptic Encephalopathy 31B
Agenesis of corpus callosum, Colpocephaly, Secondary microcephaly, Ventriculomegaly OMIM:620352
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Microcephaly OMIM:618367
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Microcephaly, Junctional ectopic tachyc... OMIM:309801
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ve... OMIM:272200
Menkes Disease
Intracranial hemorrhage, Decreased circulating ceruloplasmin concentration, Microcephaly OMIM:309400
Muenke Syndrome
Hydrocephalus, Macrocephaly ORPHA:53271
Isovaleric Acidemia
Cerebellar hemorrhage, Hyperglycinuria OMIM:243500
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Microcephaly, Abnormal aortic valve morphology, Abnormal tricus... ORPHA:192
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walk... OMIM:617281
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... OMIM:231005
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... ORPHA:264580
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Hypercholesterolemia OMIM:249310
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent foramen ovale, Partial agenesis of the corpus callosum, Patent ... OMIM:620113
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Proteinuria, Decreased response to growth hormone stimulat... ORPHA:1855
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebel... ORPHA:1647
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition ... OMIM:313850
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Kabuki Syndrome 1
Crossed fused renal ectopia, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephal... OMIM:147920
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... OMIM:261740
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Pituitary go... ORPHA:91348
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Peho Syndrome
Cerebellar atrophy, Microcephaly, Hydrocephalus, Biparietal narrowing, Ventriculomegaly ORPHA:2836
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... ORPHA:95433
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension, Ataxia, Dysphagia OMIM:615510
Neonatal Marfan Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap... ORPHA:284979
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:29072
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Muscular ventricular septal defect, Dysplastic t... OMIM:157800
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Chiari malformati... ORPHA:268810
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... ORPHA:35069
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system... OMIM:256800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Optic atrophy, Hyperammonemia, Anorexia ORPHA:79312
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... ORPHA:1834
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Partial agenesi... OMIM:614643
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Multiple Sulfatase Deficiency
Macrocephaly, Hydrocephalus, Mucopolysacchariduria, Microcephaly ORPHA:585
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology OMIM:601499
Marden-Walker Syndrome
Epispadias, Agenesis of corpus callosum, Abnormal penis morphology, Multicystic kidney dysplasia,... ORPHA:2461
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Cerebellar vermis hyp... ORPHA:1454
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:369
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, Mitral regurgita... ORPHA:261250
Bacterial Toxic-Shock Syndrome
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... ORPHA:36234
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... ORPHA:231625
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Desmosterolosis
Renal agenesis, Microcephaly, Renal hypoplasia/aplasia, Hydrocephalus, Patent ductus arteriosus, ... ORPHA:35107
Dubowitz Syndrome
Hyperactivity, Hypoplasia of the iris, Hypocholesterolemia, Megalocornea, Rod-cone dystrophy, Iri... OMIM:223370
Cinca Syndrome
Papilledema, Elevated circulating C-reactive protein concentration, Uveitis OMIM:607115
Lowry-Maclean Syndrome
Hypospadias, Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Coarctation of aorta, Atriove... ORPHA:2409
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Hypoglycemia, Macular atrophy, Neonatal hypoglycemia OMIM:619418
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Turnpenny-Fry Syndrome
Relative macrocephaly, Aortic regurgitation, Cerebellar vermis hypoplasia, Microcephaly, Patent d... OMIM:618371
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363958
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Conjunctivitis OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular al... OMIM:203300
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... OMIM:618249
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Microcephaly, Hydrocephalus, Bruising susceptibility, Agenesis of co... OMIM:612940
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Congestive heart failure, Hy... OMIM:309900
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia, Mydriasis OMIM:259720
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... ORPHA:90068
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse, Hypertension, Aortic root an... OMIM:616914
Melnick-Needles Syndrome
Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertensi... OMIM:309350
Vici Syndrome
Hypopigmentation of hair, Cataract, Macular atrophy, Elevated circulating creatine kinase concent... OMIM:242840
1Q21.1 Microdeletion Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum mo... ORPHA:250989
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Mydriasis ORPHA:95613
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy... OMIM:617282
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Microcephaly, Pineal cyst, Decreas... OMIM:618885
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Gaisböck Syndrome
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... ORPHA:90041
Friedreich Ataxia
Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Optic atrophy, D... ORPHA:95
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:403
Xeroderma Pigmentosum, Complementation Group B
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Fre... OMIM:610651
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Gracile Bone Dysplasia
Micropenis, Hydrocephalus, Hypocalcemia OMIM:602361
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Dextrocardia, Hydrocephalus, Biparietal narrowing, A... ORPHA:220493
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor... ORPHA:1493
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Situs inversus totalis, Hydrocephalus, Biparietal na... ORPHA:475
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Bladde... ORPHA:287
Serotonin Syndrome
Acute kidney injury, Mydriasis ORPHA:43116
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity, Ataxia ORPHA:309288
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Proteinuria ORPHA:90060
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia OMIM:618233
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
15Q Overgrowth Syndrome
Tricuspid regurgitation, Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horse... ORPHA:314585
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant d... ORPHA:79474
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Optic atrophy OMIM:614651
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... ORPHA:485405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Mi... OMIM:236670
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Tarp Syndrome
Cerebellar vermis hypoplasia, Subdural hemorrhage, Horseshoe kidney, Cerebellar hypoplasia, Atria... OMIM:311900
Stormorken Syndrome
Abnormal bleeding, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid he... OMIM:185070
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Mydriasis, Anisocoria, Abnormali... ORPHA:79138
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Atrial sep... OMIM:616546
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage, Oral cavity bleeding,... ORPHA:324636
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormality of the urinary system, ... ORPHA:2412
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:404
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Cataract, Inability to walk, Developmental glauc... ORPHA:99956
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar hypoplasia, Macrocephaly, Pulmo... ORPHA:3309
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Optic atrophy, Hypoglycemia OMIM:608688
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... OMIM:612284
Madras Motor Neuron Disease
Optic atrophy, Facial palsy, Dysphagia ORPHA:137867
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Cryptorc... ORPHA:2166
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... OMIM:154700
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum, Macrocephaly ORPHA:65285
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Unilateral renal agenesis ORPHA:1064
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Stromme Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Bilateral renal hypoplasia, Cerebellar... OMIM:243605
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag... OMIM:616878
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Insulin resista... ORPHA:280365
Classical-Like Ehlers-Danlos Syndrome Type 2
Keratoconjunctivitis sicca, Astigmatism, Hypertriglyceridemia ORPHA:536532
Warburg Micro Syndrome 3
Cataract, Inability to walk, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior... OMIM:614222
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Microcephaly, Cryptorchidism, Hydro... OMIM:227646
Halperin-Birk Syndrome
Colpocephaly, Perimembranous ventricular septal defect, Agenesis of corpus callosum, Ventriculome... OMIM:618651
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Abnormal T-wave,... ORPHA:444072
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... ORPHA:464329
Distal Deletion 13Q
Optic atrophy, Iris coloboma ORPHA:1590
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Ataxia OMIM:618248
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria... ORPHA:79284
Mevalonic Aciduria
Optic disc pallor, Cataract, Ataxia, Elevated circulating creatine kinase concentration, Elevated... OMIM:610377
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Ataxia, Optic atrophy, Hyperammonemia ORPHA:27
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Inability to walk, Optic atrophy, Sensory axonal neuropathy, Motor axonal neur... OMIM:609541
Leber Optic Atrophy
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... OMIM:535000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Jaberi-Elahi Syndrome
Broad-based gait, Cataract, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Choreoathet... OMIM:617988
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Communicating hydrocephalus OMIM:616084
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Microcephaly, Intraventricular hemorrhage, In... OMIM:619055
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Bardet-Biedl Syndrome 20
Papilledema, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy OMIM:619471
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Hydrocephalus, Mucopolysacchariduria, ... ORPHA:579
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephal... OMIM:130720
Meningioma
Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Neop... ORPHA:2495
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia OMIM:618329
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Hypocalcemia, Macrocephaly OMIM:259700
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated circulating ac... ORPHA:480864
Aspergillosis
Intracranial hemorrhage, Stroke, Abnormality of the kidney ORPHA:1163
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Holoprosencephaly, Ap... OMIM:612651
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Renal dysplasia, Atrial septal defect, Cerebellar vermis hypoplasia, Pa... ORPHA:480880
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Congestive heart failure, Hydrocephalus, Macrocephaly, Pulmonary arterial h... OMIM:616482
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, Mitral regurgitation, Tricuspid regurgitation, Tricuspid valve prolapse ORPHA:1101
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis ORPHA:504476
Exstrophy-Epispadias Complex
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... ORPHA:322
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydr... ORPHA:3452
Hydrolethalus
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... ORPHA:230
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia, Increased ... ORPHA:77293
Cole-Carpenter Syndrome 2
Hydrocephalus, Macrocephaly OMIM:616294
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Precocious atherosclerosis, Spina bifida occulta, Mitral valve prola... ORPHA:230839
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Microcephaly, Alobar holoprosencephaly, Patent ductus arteriosus, Agen... OMIM:301043
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci... ORPHA:35706
Kaufman Oculocerebrofacial Syndrome
Microcornea, Optic disc pallor, Astigmatism, Hypocholesterolemia OMIM:244450
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Chiari type I malforma... ORPHA:261537
Trisomy 8P
Peripheral pulmonary artery stenosis, Abnormal atrioventricular connection, Microcephaly, Cryptor... ORPHA:264450
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Cerebellofaciodental Syndrome
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Mitral valve pro... OMIM:616202
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Proteinuria, Hypermelanotic macule, Minimal change glomerulonephritis, Hyperlipi... ORPHA:1830
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Hypoplasminogenemia
Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Dandy-Walker malformation ORPHA:722
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden c... ORPHA:906
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr... ORPHA:1780
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Abnormal dentate nucleus morphology, Dilation of Virchow-Robin spaces, Microcephaly, Aqueductal s... OMIM:619512
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... OMIM:213300
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydrocephalus ORPHA:3301
Thanatophoric Dysplasia, Type I
Hydrocephalus, Macrocephaly OMIM:187600
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Hurler Syndrome
Aortic regurgitation, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excreti... OMIM:607014
Holoprosencephaly
Hyponatremia, Encephalocele, Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnorma... ORPHA:2162
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Elevated circulating creatine kinase concentratio... OMIM:614298
Osteogenesis Imperfecta
Relative macrocephaly, Abnormal endocardium morphology, Aortic regurgitation, Aortic dissection, ... ORPHA:666
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Lipemia retinalis OMIM:232200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Hypopigmented skin patches, Premature gr... ORPHA:163746
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Patent ductus arteriosu... OMIM:618188
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal heart morphology ORPHA:1865
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Ataxia, Hypermelanotic macule, Optic atrophy, Uvei... ORPHA:90321
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Biparietal narrowing, Pulmonic st... ORPHA:1340
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Choreoathetosis, A... ORPHA:2131
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulf... OMIM:253220
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Hyperlipidemia, Abnormality of urine homeostasis ORPHA:1414
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... OMIM:616959
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... ORPHA:79126
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Coarctation of aorta, Agenesis of corpu... ORPHA:268249
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... ORPHA:90324
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Osteootohepatoenteric Syndrome
Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile aci... OMIM:619377
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Optic atrophy, Elevated circulating glutaric acid concent... ORPHA:66634
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arc... ORPHA:457284
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Self-injurious behavior, Astigmatism, Compulsi... ORPHA:468678
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida ORPHA:2839
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Developmental cataract, Retinal calcification, Hyperphos... OMIM:127000
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Friedreich Ataxia
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve condu... OMIM:229300
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
7Q11.23 Microduplication Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus,... ORPHA:96121
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Hydrocephalus, Patent ductus arteriosus, Vesicoureteral re... ORPHA:1571
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Nephrolithiasi... ORPHA:79259
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Tempi Syndrome
Intracranial hemorrhage, Abnormality of the kidney, Telangiectasia ORPHA:284227
Williams Syndrome
Abnormal circulating lipid concentration, Flat cornea, Cataract, Corneal opacity, Hypercalcemia, ... ORPHA:904
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... OMIM:609192
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Alg12-Cdg
Hyponatremia, Retinal detachment, Abnormal peripheral nervous system morphology, Recurrent hypogl... ORPHA:79324
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertens... ORPHA:90795
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma ORPHA:2510
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Achondroplasia
Hydrocephalus, Macrocephaly ORPHA:15
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Monosomy 9Q22.3
Hydrocephalus, Cardiac fibroma, Chiari malformation, Macrocephaly, Nephroblastoma, Ventriculomegaly ORPHA:77301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Internal hemorrhage, Abnorma... ORPHA:99826
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Insulin-resistant diabetes mellitus, Abnormal optic disc m... ORPHA:293967
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Hydrocephalus,... ORPHA:90652
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Cryptorchidism, Horseshoe kidney, Colpoc... OMIM:620083
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Renal hypoplasia... OMIM:269860
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Mydriasis OMIM:619351
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Hydrocephalus, Dermatan sulfate excretion in urine, Cardiomyopathy, Mitr... OMIM:253200
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventr... OMIM:123790
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Right bundle branch block, Cereb... OMIM:618590
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Microcephaly, Conjugated hyperbilirubinemia, Decreased thalamic volu... ORPHA:168577
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine kinase concentration OMIM:615368
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Renal cyst, Chiari type I malformation, Hypoalbuminemia,... OMIM:270400
Spinocerebellar Ataxia Type 13
Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Difficulty walking, Dysphagia ORPHA:98768
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcemia, ... OMIM:617913
Fanconi Anemia
Atrial septal defect, Hypospadias, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Azoosp... ORPHA:84
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Astigmatism, Optic atrophy, Dystonic gait, Vitiligo ORPHA:480898
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Ketonuria, Glycosuria, Hypokalemia, Increased circ... ORPHA:466677
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal renal morphology, Abnormal heart morphology OMIM:239300
Icf Syndrome
Communicating hydrocephalus, Macrocephaly ORPHA:2268
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... OMIM:617667
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Microcephaly, Cryptorchidism, Mitral valve prolapse, Mitral regurgit... ORPHA:2462
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Hyperpigmentation of the skin, Ataxia, Akinesia, Optic atrophy, Phonic... OMIM:234200
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Hurler Syndrome
Abnormal heart valve morphology, Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Mu... ORPHA:93473
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu... ORPHA:54595
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Chordee, Secondary microce... OMIM:618820
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology OMIM:617516
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypocalcemia, Atrial septal defect, Vesicoureteral reflux, Hypos... ORPHA:567
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Gaucher Disease
Abnormal bleeding, Mitral valve calcification, Proteinuria, Abnormal pericardium morphology, Elev... ORPHA:355
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Atrial septal defect, Bruising susc... OMIM:618162
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at... OMIM:608594
Warburg Micro Syndrome 2
Microcornea, Cataract, Optic atrophy, Developmental cataract OMIM:614225
Isolated Complex I Deficiency
Increased serum pyruvate, Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemia, Optic neuro... ORPHA:2609
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Microcephaly, Hydrocephalus, Renal hypoplasia, Azotemia, Micropenis, Decreased testicular size, C... OMIM:619321
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Optic atrophy, Ataxia, Gait ataxia ORPHA:543470
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... ORPHA:275761
Cardiofaciocutaneous Syndrome 1
Relative macrocephaly, Hydrocephalus, Pulmonic stenosis, Macrocephaly, Atrial septal defect, Hype... OMIM:115150
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Chiari type I malform... OMIM:101200
Meester-Loeys Syndrome
Relative macrocephaly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneur... OMIM:300989
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hydrocephalus, Chylopericard... ORPHA:538
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Cataract, Hyperpigmentation of the skin ORPHA:90153
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia OMIM:307030
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Patent foramen ovale, Cryptorchidism, Colpocephaly, Chordee, Macrocephaly, Enlarged ... ORPHA:477993
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Macrocephaly, Dandy-Walker malformati... OMIM:605627
Apert Syndrome
Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Hyperinsulinemia, Insulin-resistant diabetes melli... OMIM:269700
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Macrocephal... ORPHA:109
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Jacobsen Syndrome
Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosence... OMIM:147791
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... ORPHA:2298
Pfeiffer Syndrome
Hydrocephalus, Chiari malformation OMIM:101600
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Abnormal renal morphology OMIM:207410
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Microcephaly ORPHA:220295
Orofaciodigital Syndrome I
Proteinuria, Microcephaly, Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Hypertensi... OMIM:311200
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis OMIM:619727
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Retinal arteriolar tortuosity, Blue irides, Premature graying o... OMIM:194050
Cat Eye Syndrome
Atrial septal defect, Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Horses... OMIM:115470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Papilledema, Pterygium, Iris coloboma ORPHA:371428
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Anorexia, Ectopia lentis, Opti... ORPHA:394
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Lacrimal duct stenosis, Urethral stenosis, Megacystis, Blue irides, Bladder divertic... OMIM:604292
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase co... OMIM:607426
Coccidioidomycosis
Renal insufficiency, Pericarditis, Abnormal sperm morphology, Abnormality of the kidney, Broad sk... ORPHA:228123
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... OMIM:614185
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... ORPHA:67036
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Glycosuria ORPHA:436271
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Xanthelasma, Hy... OMIM:232220
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Optic atrophy, Abnormality of so... ORPHA:1187
Shprintzen-Goldberg Craniosynostosis Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Chiari type I malformation, A... OMIM:182212
Menkes Disease
Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Arterial stenosis, Intracranial ... ORPHA:565
Joubert Syndrome 8
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:612291
Mucopolysaccharidosis Type 3
Cardiomegaly, Heparan sulfate excretion in urine, Hydrocephalus, Atrioventricular block, Mucopoly... ORPHA:581
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Reti... ORPHA:191
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Opitz-Kaveggia Syndrome
Relative macrocephaly, Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus... OMIM:305450
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Microcephaly, Situs inversus t... ORPHA:564
Costello Syndrome
Renal insufficiency, Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Chiari type... OMIM:218040
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... ORPHA:101076
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia OMIM:610217
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Hydronephrosis, Macrocephaly OMIM:260660
Holoprosencephaly 7
Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... OMIM:610828
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase... ORPHA:98908
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hydrocephalus, Pulmonary artery stenosis, Hypophosphatemia, ... ORPHA:667
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... OMIM:610829
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus trac... OMIM:600145
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Normal pressure hydrocephalus, Mildly elevated creatine kinase, Bradycardia OMIM:620351
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... OMIM:259900
Oculodentodigital Dysplasia
Neurogenic bladder, Cataract, Optic atrophy, Abnormality iris morphology, Microcornea ORPHA:2710
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Macrocephaly OMIM:162200
Iniencephaly
Encephalocele, Renal agenesis, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Macrocephaly... ORPHA:58
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Aortic root aneurysm, ... OMIM:245600
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Corneal scarring, Attenuation of retinal blood vessels OMIM:610965
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Yellow Fever
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase conce... ORPHA:99829
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Pericardial effusion, Cryptorchidism, Hydrocephalus, Patent ductus art... ORPHA:1272
Raine Syndrome
Hydroureter, Microcephaly, Hydrocephalus, Hypophosphatemia, Hydronephrosis OMIM:259775
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Hyd... OMIM:258040
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Stage ... ORPHA:805
Choreoacanthocytosis
Lateral ventricle dilatation, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... ORPHA:2388
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms, Situs inversus totalis OMIM:244400
Vacterl With Hydrocephalus
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr... ORPHA:3412
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Juxtaductal coarctation of the... ORPHA:3310
Crouzon Syndrome
Hydrocephalus OMIM:123500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab... ORPHA:363700
Biotinidase Deficiency
Conjunctivitis, Ataxia, Optic atrophy, Hyperammonemia OMIM:253260
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Ventricular septal defect, Partial agenesis of the corpus callosum,... OMIM:300373
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Hydrocephalus, Cryptorchidism ORPHA:1555
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Fabry Disease
Conjunctival telangiectasia, Renal insufficiency, Cataract, Corneal opacity, Corneal dystrophy, P... ORPHA:324
Mend Syndrome
Cryptorchidism, Elevated 8-dehydrocholesterol, Hydrocephalus, Elevated 8(9)-cholestenol, Abnormal... ORPHA:401973
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Mend Syndrome
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Crossed fused renal ectopia, Dandy-Walker m... OMIM:300960
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Vesicoureteral reflux, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Vesicoureteral reflux, P... ORPHA:353277
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida, Microcephaly OMIM:613776
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Optic disc coloboma, Renal hypoplasia, Microcornea, Ciliary body colobo... OMIM:309800
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotension, Acute ... ORPHA:244242
Oculoectodermal Syndrome
Hyperactivity, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea, Astigmatism, Opacifica... OMIM:600268
Sandhoff Disease, Infantile Form
Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Mitral valve prolapse, Mitral r... ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... OMIM:253280
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin... ORPHA:93598
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Optic disc hypoplasia, Hypertriglyceridemia, Ataxia, Optic atrophy, Pi... ORPHA:3455
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... ORPHA:29073
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,... OMIM:308300
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Cerebellar hypoplasia, Micropenis OMIM:614083
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Blue irides, Bladder diverticulum, Ureterocele, Vesicoureteral reflux, Generalized h... OMIM:129900
Cerebrotendinous Xanthomatosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... ORPHA:909
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Developmental cataract, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetan... ORPHA:93325
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... ORPHA:1507
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse, Vesicoureteral reflu... OMIM:606408
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Iris atrophy, Urinary incontinence OMIM:146500
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c OMIM:619127
19P13.12 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Hyperlipidemia ORPHA:254346
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Hypospadias, Abnormal pulmonary valve morph... ORPHA:500
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Hajdu-Cheney Syndrome
Hypospadias, Mitral stenosis, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus,... ORPHA:955
Achondroplasia
Hydrocephalus, Macrocephaly OMIM:100800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Thoracic aortic aneurysm, Hydrocephalus, Mitral valve prolapse, Ascending tubular... ORPHA:536467
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Type II diabetes mellitus, Ataxia OMIM:604121
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Microcephaly, Congestive heart failure, Renal hypo... OMIM:105650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Aqueductal stenosis, Hydrocep... OMIM:154400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce... ORPHA:2072
Peroxisome Biogenesis Disorder 4B
Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... OMIM:614863
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Microc... ORPHA:709
Marshall-Smith Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus... OMIM:602535
Biotinidase Deficiency
Ataxia, Optic neuropathy, Optic atrophy, Hyperammonemia, Conjunctivitis ORPHA:79241
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin, Decreased response to growth hormone stimulation test OMIM:616007
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Hajdu-Cheney Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... OMIM:102500
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... ORPHA:139417
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Macrocephaly OMIM:109400
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... OMIM:613406
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Colpocephaly, Cerebellar hypoplasia, Macrocephaly ORPHA:75857
Legius Syndrome
Inguinal freckling, Cataract, Hyperactivity, Axillary freckling, Neurofibroma, Xanthelasma, Vesti... ORPHA:137605
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Abnormal pupil morphology, Cystocele, Renovascular hypertension, Melano... ORPHA:286
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly, Macrocephaly OMIM:617011
Wolfram Syndrome 2
Diabetes mellitus, Optic atrophy, Optic neuropathy OMIM:604928
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... OMIM:259770
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Optic atrophy OMIM:201180
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... ORPHA:217085
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... ORPHA:744
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... ORPHA:217093
Tyrosinemia, Type I
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe... OMIM:276700
Riddle Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Microcephaly, ... ORPHA:420741
Dubowitz Syndrome
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Hydronephrosis ORPHA:235
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citrulline, Optic atrophy, G... ORPHA:255210
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Microcephaly, Cryptorchidism, Patent... OMIM:616682
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Optic atrophy, Head-banging, Developmen... ORPHA:86309
Wiedemann-Rautenstrauch Syndrome
Cataract, Hypospadias, Long penis, Hypertriglyceridemia OMIM:264090
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Hydrocephalus,... ORPHA:2369
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Gluco... ORPHA:189427
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Horseshoe kidney, Macrocephaly, Patent foramen ovale ORPHA:221120
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Microcephaly, Patent ductus arteriosus, Interrupte... OMIM:164280
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hyperammonemia, Intracranial hemorrhage, P... ORPHA:90062
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Robinow Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog... ORPHA:97360
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Cryptorchidism, Macrocephaly, ... ORPHA:2658
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Microcephaly... OMIM:619475
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Micropenis, Ventriculomegaly ORPHA:457359
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp... OMIM:619841
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Leptospirosis
Papilledema, Anorexia, Retinal hemorrhage, Uveitis, Chorioretinitis, Hyperproteinemia, Optic neur... ORPHA:509
1P36 Deletion Syndrome
Cataract, Optic atrophy, Ocular albinism, Polyphagia, Self-injurious behavior, Gait disturbance, ... ORPHA:1606
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Hyperpigmentation of the skin ORPHA:90154
Mohr Syndrome
Hydrocephalus OMIM:252100
Cockayne Syndrome A
Cerebellar atrophy, Renal insufficiency, Proteinuria, Microcephaly, Cryptorchidism, Hypertension,... OMIM:216400
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... ORPHA:93924
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Retinopathy ORPHA:416
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hypotension ORPHA:100079
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Cryptorch... ORPHA:95699
Geleophysic Dysplasia 1
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular... ORPHA:3472
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Cerebellar vermis hypoplasia, Bicuspid aortic ... OMIM:612289
Sponastrime Dysplasia
Microcoria, Cataract, Hypospadias, Congenital aphakia ORPHA:93357
Townes-Brocks Syndrome 1
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral va... OMIM:107480
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Cerebellar atrophy, Recurrent urinary tract infections, Aortic regur... ORPHA:309282
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Abnormal ... ORPHA:508498
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Fraser Syndrome 1
Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Cryptorchidism, Hydrocephalus... OMIM:219000
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Macrocephaly, Subdural hemorrhage, Microcephaly OMIM:619714
Campomelic Dysplasia
Relative macrocephaly, Hypospadias, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spina... OMIM:114290
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy OMIM:601539
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus, Horseshoe kidney ORPHA:1106
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir... ORPHA:637
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Astigmatism, Tip-toe gait, Self-mutilation, Hyperpigmentation of the... OMIM:619268
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Microcephaly, Cryptorchidism, Colpocepha... OMIM:606170
Tetraamelia Syndrome 1
Urethral atresia, Hydrocephalus, Renal agenesis OMIM:273395
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Pmm2-Cdg
Pericarditis, Cerebellar vermis hypoplasia, Proteinuria, Angina pectoris, Elevated circulating gr... ORPHA:79318
Leopard Syndrome 1
Bundle branch block, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defe... OMIM:151100
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... OMIM:232240
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephal... OMIM:312870
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Abnorma... ORPHA:293987
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydro... OMIM:261540
Coffin-Siris Syndrome 12
Hypospadias, Microcephaly, Patent foramen ovale, Cryptorchidism, Noncommunicating hydrocephalus, ... OMIM:619325
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Cerebellar calcifications, Microcephaly, Cryptorchidism, Hypert... OMIM:133540
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Hydrolethalus Syndrome 1
Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Seve... OMIM:236680
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... OMIM:617107
Focal Dermal Hypoplasia
Ureteral duplication, Microcephaly, Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida... OMIM:305600
Cryptococcosis
Hydrocephalus ORPHA:1546
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect,... OMIM:164210
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus ORPHA:91
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Roberts-Sc Phocomelia Syndrome
Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Long penis, ... OMIM:268300
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Atrial septal defect, Dilatation of the... OMIM:304120
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Baller-Gerold Syndrome
Abnormality of the kidney, Hydrocephalus, Abnormal heart morphology, Chiari malformation, Spina b... OMIM:218600
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia OMIM:208150
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:3042
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia, Diabetes mellitus OMIM:241080
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Woodhouse-Sakati Syndrome
Choreoathetosis, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia ORPHA:3464
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665

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 Col18a1

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 Col18a1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Col18a1tm1.1(KOMP)Vlcg PMC5503261
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells. PloS one (July 2013) Col18a1tm1(KOMP)Vlcg PMC3699516

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Col18a1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Col18a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Col18a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col18a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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