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Gene: Scrib MGI:2145950

Gene Summary

Name:

scribbled planar cell polarity

Synonyms:

Crc, Scrb1

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	Allele	Zyg	Life Stage	P Value
pale yolk sac	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal embryo size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E15.5	0.00
abnormal embryo size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal embryo size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal neural tube closure	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal eye morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Scrib^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
embryonic growth retardation	Scrib^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal craniofacial morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal craniofacial morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E15.5	0.00
increased circulating triglyceride level	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	2.25×10^-05
abnormal midbrain morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal hindbrain morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal retina morphology	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	6.47×10^-07
abnormal placenta size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal neural tube closure	Scrib^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal gait	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	8.72×10^-05
decreased grip strength	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	6.02×10^-05
abnormal pericardium morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	Ambiguous
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Ear	N/A	heterozygote	100% (2 of 2)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	100% (2 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
Gut	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	100% (2 of 2)
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	100% (2 of 2)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	100% (2 of 2)
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% (2 of 2)
	N/A		Ambiguous
Oral cavity	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	homozygote	Ambiguous
Skeleton	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Skin	N/A	heterozygote	100% (2 of 2)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	Ambiguous
Trachea	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Urinary system	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous

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

Anatomy	Background staining in controls (WT)

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)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	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%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

13 Images

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Gross Morphology Embryo E9.5

Images

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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OPT E9.5

Embryo reconstruction

8 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

3 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Human diseases caused by Scrib mutations

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

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

Human diseases associated with Scrib (0 diseases)
Human diseases predicted to be associated with Scrib (1201 diseases)

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

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

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Microphthalmia, Retinal dysplasia	ORPHA:324416
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Craniotelencephalic Dysplasia	Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Microphthalmia,...	ORPHA:1528
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Frontal encephalocele, Agenesis of corpus callosum	OMIM:218670
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Oculocerebrocutaneous Syndrome	Eyelid coloboma, Anophthalmia, Orbital cyst, Agenesis of corpus callosum, Orbital encephalocele, ...	OMIM:164180
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Lissencephaly 8	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Microphthalmia	OMIM:617255
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation, Encephalocele	ORPHA:65
Lissencephaly 5	Optic atrophy, Occipital encephalocele, Hydrocephalus	OMIM:615191
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hartsfield Syndrome	Downslanted palpebral fissures, Intrauterine growth retardation, Telecanthus, Encephalocele, Ptos...	ORPHA:2117
Joubert Syndrome 16	Encephalocele, Dandy-Walker malformation, Retinal dystrophy	OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Retinal dysplasia, Hydrocephalus, Microphthalmia	OMIM:614830
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Macular hypoplasia, Colpocephaly...	ORPHA:2185
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss...	OMIM:616516
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Telecanthus, Eyelid coloboma, Ethmoidal encephalocele, Optic nerve hypo...	OMIM:607597
Joubert Syndrome 9	Ventriculomegaly, Encephalocele, Retinal dystrophy	OMIM:612285
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Joubert Syndrome 14	Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Morning glory anomaly, Ence...	OMIM:614424
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Meckel Syndrome 13	Occipital encephalocele, Retinopathy	OMIM:617562
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated four...	ORPHA:370959
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Distal Deletion 13Q	Optic atrophy, Encephalocele, Holoprosencephaly, Anencephaly, Aplasia/Hypoplasia affecting the eye	ORPHA:1590
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Absent eyelashes, Absent eyebrow, Encephalocele	OMIM:200130
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Retinal dysplasia, Encephalocele, Death in infancy, Death in childhood, Retinal...	OMIM:614643
Cocaine Embryofetopathy	Thoracoabdominal eventration, Encephalocele	ORPHA:1911
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Isolated Dandy-Walker Malformation	Encephalocele, Dandy-Walker malformation	ORPHA:217
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hypoplasia of the iris, Hydrocephalus, Nasofrontal encep...	OMIM:614195
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Hypobetalipoproteinemia, Familial, 1	Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decre...	OMIM:615558
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Omphalocele, Microphthalmia, Meningocele, Anencep...	OMIM:603194
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Frontofacionasal Dysplasia	Telecanthus, Absent inner eyelashes, Encephalocele, Upper eyelid coloboma, Ptosis, Blepharophimos...	ORPHA:1791
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan...	ORPHA:2302
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Agenesis of corpus callosum, Epicanthus, ...	OMIM:136760
Joubert Syndrome 7	Ptosis, Encephalocele, Retinal dystrophy	OMIM:611560
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Downslanted palpebral fissures, Agenesis of corpus callosum, Ptosis...	OMIM:618736
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Neu-Laxova Syndrome 2	Ablepharon, Ventriculomegaly, Intrauterine growth retardation, Spina bifida	OMIM:616038
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Parietal Foramina 3	Encephalocele	OMIM:609566
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anenc...	OMIM:611134
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Holoprosencephaly	OMIM:611638
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Intrauterine growth retardation, Retinopathy, Macular atrophy, Microphthalmia, Opt...	OMIM:616171
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Ptosis, Occipital encephalocele	OMIM:612291
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Chorioretinal coloboma, Encephalocele, Aganglionic megacolon, Ptosis, Hydr...	ORPHA:2318
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia	OMIM:613885
Manitoba Oculotrichoanal Syndrome	Cryptophthalmos, Eyelid coloboma, Anophthalmia, Omphalocele, Nasolacrimal duct obstruction, Micro...	OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Encephalocele, Agenesis of corpus callosum, Retinal detachment, Hydrocephalus, Mic...	OMIM:253800
Parietal Foramina 2	Encephalocele	OMIM:609597
Meckel Syndrome, Type 10	Occipital encephalocele, Dilated fourth ventricle, Epicanthus, Ptosis, Narrow palpebral fissure, ...	OMIM:614175
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Partial agenesis of the corpus callosum, Dilated fourth ventricle, Retinal dysplasia, Microphthalmia	OMIM:615771
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Retinal coloboma, Encephalocele, Agenesis of corpus callosum, Aganglionic ...	ORPHA:220493
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun...	OMIM:167730
Pseudoprogeria Syndrome	Absent eyelashes, Cranium bifidum occultum, Sparse eyebrow, Absent eyebrow	ORPHA:2985
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Lung adenocarcinoma, Adrenocortical car...	ORPHA:1501
Oculoauriculofrontonasal Syndrome	Upper eyelid coloboma, Limbal dermoid, Encephalocele	ORPHA:398156
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Epicanthus, Hydrocephalus, Men...	ORPHA:1908
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Telecanthus, Upslanted palpebral fissure, Encephalocele, Agenesi...	ORPHA:228390
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Blepharophimosis, Eyelid coloboma	ORPHA:1104
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Hypothalamic hamartoma, Hydrocephalus, Anterior hypopi...	OMIM:241800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas...	OMIM:251270
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Hypertriglyceridemia	OMIM:615924
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD...	OMIM:615703
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Agenesis of corpus callosum	ORPHA:250972
Schisis Association	Anencephaly, Encephalocele, Spina bifida, Omphalocele	ORPHA:63862
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Pterygium, Intrauterine growth retardat...	OMIM:263650
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele, Partial agenes...	ORPHA:101030
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Abnormal macula...	OMIM:607616
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosum, Retinal at...	OMIM:236670
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ...	ORPHA:280195
Congenital Toxoplasmosis	Ventriculomegaly, Intrauterine growth retardation, Abnormality of retinal pigmentation, Hydroceph...	ORPHA:858
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Jacobsen Syndrome	Optic atrophy, Chorioretinal coloboma, Intrauterine growth retardation, Telecanthus, Eyelid colob...	OMIM:147791
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon, Microphthalmia	OMIM:123570
Joubert Syndrome 2	Enlarged fossa interpeduncularis, Chorioretinal coloboma, Optic disc coloboma, Encephalocele, Hyd...	OMIM:608091
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Death in childhood, Death in in...	OMIM:616034
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Acromelic Frontonasal Dysplasia	Ventriculomegaly, Hypopituitarism, Telecanthus, Encephalocele, Agenesis of corpus callosum, Ptosi...	ORPHA:1827
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Cofs Syndrome	Optic atrophy, Intrauterine growth retardation, Abnormality of retinal pigmentation, Death in inf...	ORPHA:1466
Parietal Foramina 1	Encephalocele	OMIM:168500
Oculotrichoanal Syndrome	Nasolacrimal duct obstruction, Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Microphthalmia	ORPHA:2717
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Orbital Margin, Hypoplasia Of	Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia	OMIM:165600
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida, Gastroschisis	ORPHA:2476
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Death in infancy, Neonatal death, Microphthalmia, Optic disc pallor	OMIM:613730
Microphthalmia, Isolated 8	Short palpebral fissure, Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthal...	OMIM:615113
Cerebrooculonasal Syndrome	Ventriculomegaly, Sparse eyebrow, Encephalocele, Anophthalmia, Sparse eyelashes, Epicanthus, Ptos...	OMIM:605627
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea...	OMIM:602588
Neu-Laxova Syndrome 1	Hydranencephaly, Ventriculomegaly, Small placenta, Pterygium, Intrauterine growth retardation, Mi...	OMIM:256520
Microphthalmia/Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia	OMIM:616428
Knobloch Syndrome 1	Ventriculomegaly, Occipital encephalocele, Horizontal eyebrow, Vitreoretinopathy, Telecanthus, At...	OMIM:267750
Frontorhiny	Cranium bifidum occultum, Hypopituitarism, Encephalocele, Basal encephalocele, Epicanthus, Ptosis...	ORPHA:391474
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Knobloch Syndrome	Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Epicanthus, Abnormal vitreous h...	ORPHA:1571
Idiopathic Uveal Effusion Syndrome	Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia	ORPHA:209956
Craniofacial Microsomia 2	Microtia, first degree, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Micr...	OMIM:620444
Halperin-Birk Syndrome	Optic atrophy, Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Intrauterine grow...	OMIM:618651
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum	OMIM:616570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Joubert Syndrome 18	Occipital encephalocele, Intrauterine growth retardation, Ventricular septal defect, Molar tooth ...	OMIM:614815
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Chorioretinal coloboma, Ptosis, Retinal detachment, Microphthalmia	ORPHA:1473
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Congenital Herpes Simplex Virus Infection	Hydranencephaly	ORPHA:293
Holoprosencephaly	Chorioretinal coloboma, Encephalocele, Anophthalmia, Epicanthus, Blepharophimosis, Microphthalmia...	ORPHA:2162
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Ventriculomegaly, Chor...	ORPHA:141099
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Intrauterine growth retardation, Almond-shaped palpebral fissure, Frontal encephalocele, Agenesis...	ORPHA:521308
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Death in childhood, Agenesis of corpus callosum, Retinal detachment, Hydrocepha...	OMIM:613153
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M...	ORPHA:137605
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Coach Syndrome 1	Optic disc pallor, Ptosis, Occipital encephalocele, Encephalocele	OMIM:216360
Dworschak-Punetha Neurodevelopmental Syndrome	Sparse lateral eyebrow, Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic corpus cal...	OMIM:619955
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Anterior encephalocele, Omphalocele	OMIM:601357
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Occipital encephalocele, Chorioretinal coloboma, Optic disc coloboma, Ingu...	ORPHA:1454
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Long eyelashes, Thick eyebrow, ...	OMIM:619833
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Hydrocephalus, Retinal dystrophy, Microphthalmia	OMIM:613155
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, Ptosis,...	ORPHA:220497
Fraser Syndrome 1	Lacrimal duct aplasia, Bilateral microphthalmos, Myelomeningocele, Cryptophthalmos, Encephalocele...	OMIM:219000
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Agenesis of corpus callosum	OMIM:274270
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Retinopathy, Encephalocele, Megalopapilla, Anophthalmia, ...	OMIM:615636
Griscelli Syndrome	Hydrocephalus, Abnormal eyebrow morphology, Encephalocele, Abnormal eyelash morphology	ORPHA:381
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Downslanted palpebral fissures, Agenesis...	OMIM:615219
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Foveal Hypoplasia 2	Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia	OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Ventriculomegaly, Dilated third ventricle, Pigmentary retinopathy, Lateral ventric...	OMIM:613154
Pai Syndrome	Telecanthus, Encephalocele, Downslanted palpebral fissures	ORPHA:1993
Fraser Syndrome 3	Cryptophthalmos, Hydrocephalus, Stillbirth	OMIM:617667
Adams-Oliver Syndrome 2	Optic atrophy, Lateral ventricle dilatation, Hydrocephalus, Narrow palpebral fissure, Microphthalmia	OMIM:614219
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Pseudotrisomy 13 Syndrome	Encephalocele, Upslanted palpebral fissure, Agenesis of corpus callosum, Hydrocephalus, Omphaloce...	OMIM:264480
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr...	ORPHA:1532
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Ptosis, Eyelid coloboma, Downslanted palpebral fissures	OMIM:268850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Encephalocele, Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Mi...	OMIM:613150
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Perlman Syndrome	Abnormal pancreas morphology, Capillary hemangioma, Cryptorchidism, Nephroblastoma, Hepatomegaly,...	ORPHA:2849
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Joubert Syndrome	Highly arched eyebrow, Encephalocele, Aganglionic megacolon, Ptosis, Hydrocephalus	ORPHA:475
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Eyelid coloboma, Agenesis of corpus callosum, Hydrocephalus, Microphthalm...	OMIM:613001
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Frontonasal Dysplasia 2	Short palpebral fissure, Sparse eyebrow, Intrauterine growth retardation, Telecanthus, Encephaloc...	OMIM:613451
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Barber-Say Syndrome	Ectropion, Telecanthus, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Ablepharon	ORPHA:1231
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Lipemia retinalis, Hypercholesterolemia, Decreas...	OMIM:207750
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Microphthalmia	OMIM:614497
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Optic atrophy, Agenesis of corpus callosum, Ptosis, Microphthalmia	OMIM:600118
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Frontonasal Dysplasia 3	Microphthalmia, Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes	OMIM:613456
Microphthalmia, Isolated 6	Retinal fold, Microphthalmia	OMIM:613517
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation, Chorioretinal coloboma, Downslanted palpebral fi...	ORPHA:195
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Impotence, Hypohidrosis, Xerostomia	ORPHA:43393
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Frontofacionasal Dysplasia	Cranium bifidum occultum, Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, ...	OMIM:229400
Treacher Collins Syndrome 4	Lower eyelid coloboma, Downslanted palpebral fissures	OMIM:618939
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Eyelid coloboma, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia	ORPHA:268249
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Gastroschisis, Hydrocephalus, Spina bifida, O...	ORPHA:63259
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral ventricl...	OMIM:608629
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Overfolded helix, Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:2631
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Eyelid coloboma, Ptosis, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Molar tooth sign on MRI	ORPHA:166024
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Bresek Syndrome	Intrauterine growth retardation, Neonatal death, Aganglionic megacolon, Hydrocephalus, Microphtha...	ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Retinal dysplasia, Occipital encephalocele, Optic nerve dysplasia, Agenesis of ...	OMIM:615287
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Duplication Of The Pituitary Gland	Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Congenital stationa...	ORPHA:314621
Band Heterotopia	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Microphthalmia, Syndromic 13	Ptosis, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Molar tooth sign on MRI	OMIM:614120
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Constricting Bands, Congenital	Eyelid coloboma, Encephalocele, Omphalocele, Bladder exstrophy, Gastroschisis	OMIM:217100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthus, Microphthalmia	OMIM:615877
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Momo Syndrome	Epicanthus, Retinal coloboma, Eyelid coloboma, Downslanted palpebral fissures	OMIM:157980
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Neonatal death	OMIM:614870
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Encephalocele, Anophthalmia, Aplasia/Hypoplasia...	ORPHA:564
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:488635
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Downslanted palpebral fissures, Pterygium, Intrauterine growth retardation, Low...	OMIM:616462
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Ablepharon Macrostomia Syndrome	Umbilical hernia, Cryptophthalmos, Absent eyelashes, Absent eyebrow, Omphalocele, Ablepharon	ORPHA:920
Joubert Syndrome 22	Agenesis of cerebellar vermis, Intrauterine growth retardation, Molar tooth sign on MRI	OMIM:615665
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Microphthalmia/Coloboma 4	Microphthalmia, Orbital cyst	OMIM:251505
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Hydrocephalus, Encephalocele, Miscarriage	ORPHA:1865
Acromelic Frontonasal Dysostosis	Ventriculomegaly, Downslanted palpebral fissures, Hypopituitarism, Telecanthus, Encephalocele, Ag...	OMIM:603671
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Burn-Mckeown Syndrome	Short palpebral fissure, Lower eyelid coloboma, Inguinal hernia, Blepharophimosis	OMIM:608572
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma, Downslanted palpebral fissures, Eyelid coloboma...	ORPHA:2563
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Gastroschisis	Intrauterine growth retardation, Gastroschisis	ORPHA:2368
Arachnoid Cyst	Enlarged fossa interpeduncularis, Cranial nerve compression, Encephalocele, Ptosis, Facial palsy,...	ORPHA:2356
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Epicanthus, Hydrocephalus, Microphthalmia	OMIM:602501
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Shallow orbits, Encephalocele	OMIM:224400
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Agenesis of corpus callosum, Epicanthus, Microphthalmia, Anencephaly, Dandy-Walker...	OMIM:619148
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell...	OMIM:609583
Griscelli Syndrome Type 1	Hyperlipidemia, Retinopathy, Ataxia	ORPHA:79476
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Hypoplasia of eyelid, Intrauterine growth retardation, Hydrocephalus, Retinal dyst...	OMIM:619321
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Pagod Syndrome	Optic atrophy, Encephalocele, Death in infancy, Spina bifida, Omphalocele, Meningocele	ORPHA:991
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Gombo Syndrome	Microphthalmia	OMIM:233270
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Occipital encephalocele, Neonatal death	OMIM:224410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus, Retinal d...	OMIM:152950
Fraser Syndrome	Lacrimal duct aplasia, Umbilical hernia, Myelomeningocele, Cryptophthalmos, Encephalocele, Death ...	ORPHA:2052
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Enlarged Parietal Foramina	Myelomeningocele, Occipital encephalocele	ORPHA:60015
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Sparse eyebrow, Eyelid coloboma, Sparse eyelashes, Agenesis of corpus c...	ORPHA:306542
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Joubert Syndrome 39	Occipital encephalocele, Retinal dystrophy	OMIM:619562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Encephalocele, Omphalocele, Stillbirth, Microphthalmia, Dandy-Walker malformation	OMIM:616300
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele, Microphthalmia	ORPHA:974
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele, Omphalocele	ORPHA:1335
Walker-Warburg Syndrome	Optic atrophy, Ventriculomegaly, Abnormal optic nerve morphology, Microphthalmia, Anophthalmia, A...	ORPHA:899
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Ankyloblepharon, Anophthalmia, Microphthalmia	ORPHA:85275
Malan Overgrowth Syndrome	Ventriculomegaly, Optic disc hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fiss...	ORPHA:420179
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Lateral ventricle dilatation, Downslanted palpebral fissures...	OMIM:614105
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Encephalocele, Blepharophimosis	ORPHA:3374
Microphthalmia/Coloboma 12	Ventriculomegaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of t...	OMIM:120200
Teebi Hypertelorism Syndrome 2	Ptosis, Upper eyelid coloboma, Thick eyebrow	OMIM:619736
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Low-set ears, Omphalocele, Pulmonary hypoplasia	OMIM:601163
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Encephalocele, Hydrocephalus, Omphalocele, Microphthalmia, Holoprosencephaly	ORPHA:2166
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Meningocele, Pseudopapilledema, Facial palsy	ORPHA:3456
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Highly arched eyebrow, Optic disc pallor, Agenesis of corpus callosum	OMIM:300887
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Aicardi Syndrome	Optic atrophy, Dilated third ventricle, Lateral ventricle dilatation, Sparse lateral eyebrow, Opt...	OMIM:304050
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Abnormal cerebellum morphology, Molar tooth sign on MRI	OMIM:617757
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Intrauterine growth retardation, Broad e...	ORPHA:494344
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Chorioretinal coloboma, Microphthalmia	OMIM:120433
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Upslanted palpebral fissure, Microphthalmia	ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Retinal degeneration, Agenesis of corpus callosum, Hydrocephalus, Microph...	OMIM:615249
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Encephalocele, Vitreous floaters	OMIM:618458
Bartsocas-Papas Syndrome	Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl...	ORPHA:1234
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Jacobsen Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Intrauterine growth retardation, Inguinal herni...	ORPHA:2308
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Downslanted palpebral fissures, Eyelid coloboma, Encephalocele, Exencephaly, Ptosis	ORPHA:2211
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Slc35A2-Cdg	Abnormal midbrain morphology, Cerebellar atrophy, Abnormal heart morphology, Tetralogy of Fallot,...	ORPHA:356961
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Ventriculomegaly, Telecanthus, Agenesis of corpus callosum, Long palpebral...	OMIM:614583
Charge Syndrome	Highly arched eyebrow, Optic atrophy, Chorioretinal coloboma, Umbilical hernia, Intrauterine grow...	ORPHA:138
Biemond Syndrome Type 2	Hydrocephalus, Microphthalmia	ORPHA:141333
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Ptosis, Spina bifida occulta, Dandy-Wa...	OMIM:616602
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Panc...	OMIM:167800
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:617127
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Ventriculomegaly, Almond-shaped palpebral fissure, Agenesis of corpus callosum, Lo...	OMIM:620352
Joubert Syndrome 5	Ptosis, Occipital encephalocele, Rod-cone dystrophy, Retinal coloboma	OMIM:610188
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Telecanthus, Eyelid coloboma, Agenesis of corpus callosum, Epicanthus, A...	ORPHA:3339
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Pulmonary hypoplasia	ORPHA:2141
Ablepharon-Macrostomia Syndrome	Cryptophthalmos, Hypoplasia of eyelid, Absent eyelashes, Ventral hernia, Absent eyebrow, Omphaloc...	OMIM:200110
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Lateral ventricle dilatation, Umbilical hernia, Dilated fourth ventricle, ...	OMIM:617751
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Intrauterine growth retardation, Abnormality of peripheral nerve conduction, Pe...	ORPHA:48431
Otopalatodigital Syndrome Type 2	Downslanted palpebral fissures, Myelomeningocele, Encephalocele, Hydrocephalus, Omphalocele	ORPHA:90652
Postaxial Acrofacial Dysostosis	Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures	ORPHA:246
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Gait ataxia, Hypertriglyceridemia	ORPHA:363400
Acrofrontofacionasal Dysostosis	Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma, Downslanted palpebral fissures	ORPHA:1784
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Joubert Syndrome 30	Dandy-Walker malformation, Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on...	OMIM:617622
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Agenesis ...	OMIM:609053
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI	OMIM:619111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Temtamy Syndrome	Telecanthus, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Cach Syndrome	Optic atrophy, Lateral ventricle dilatation, Intrauterine growth retardation, T2 hypointense thal...	ORPHA:135
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Pierpont Syndrome	Ventriculomegaly, Telecanthus, Narrow palpebral fissure, Microphthalmia	ORPHA:487825
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Temtamy Syndrome	Highly arched eyebrow, Ventriculomegaly, Chorioretinal coloboma, Downslanted palpebral fissures, ...	OMIM:218340
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli...	OMIM:615947
Vacterl With Hydrocephalus	Abnormal optic nerve morphology, Intrauterine growth retardation, Inguinal hernia, Anophthalmia, ...	ORPHA:3412
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Optic disc coloboma, Microphthalmia	OMIM:169550
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Cryptorchidism, Abnormal spleen morphology, Abnormal...	ORPHA:2470
Pierpont Syndrome	Abnormal peripheral nervous system morphology, Unilateral narrow palpebral fissure, Telecanthus, ...	OMIM:602342
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Lon...	OMIM:243310
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Oculoectodermal Syndrome	Chorioretinal atrophy, Eyelid coloboma, Epicanthus, Pineal cyst, Limbal dermoid, Bladder exstrophy	OMIM:600268
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Chorioretinal coloboma, Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Retinal...	OMIM:212550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Limb Body Wall Complex	Abdominal wall defect, Myelomeningocele, Diastasis recti, Encephalocele, Short umbilical cord, Th...	ORPHA:2369
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:98855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus, Microphthalmia, Buphthalmos, Retinal dystrophy	OMIM:616538
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re...	ORPHA:2788
Gorlin-Chaudhry-Moss Syndrome	Upper eyelid coloboma, Abnormal eyelid morphology, Umbilical hernia	ORPHA:2095
Oculoauricular Syndrome	Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular...	OMIM:612109
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Death in infancy	OMIM:618266
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Telecanthus, Upslanted palpebral ...	OMIM:615948
Vacterl/Vater Association	Intrauterine growth retardation, Occipital encephalocele, Omphalocele, Anencephaly	ORPHA:887
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,...	OMIM:267700
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Narrow palpebral fiss...	OMIM:620156
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Short palpebral fissure, Lateral ventricle dilatation, Downslanted palpebral fi...	OMIM:615873
Alg2-Cdg	Epicanthus, Lateral ventricle dilatation, Downslanted palpebral fissures	ORPHA:79326
Fraser Syndrome 2	Cryptophthalmos, Microphthalmia	OMIM:617666
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Joubert Syndrome 10	Short stature, Cerebellar vermis hypoplasia, Growth delay, Molar tooth sign on MRI	OMIM:300804
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Abetalipoproteinemia	Ataxia, Retinopathy, Abetalipoproteinemia, Retinal degeneration	OMIM:200100
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Retinopathy, Inguinal hernia, Epicanthus, Microphthalmia	ORPHA:2505
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Upslanted palpebral fissure, Lateral ventricle dilata...	OMIM:613443
Branchiogenic Deafness Syndrome	Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Conductive hearing imp...	ORPHA:50815
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Nager Syndrome	Downslanted palpebral fissures, Lower eyelid coloboma, Ptosis, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:245
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Microphthalmia/Coloboma 9	Ptosis, Retinal detachment, Narrow palpebral fissure, Microphthalmia, Macular coloboma	OMIM:615145
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Meckel Syndrome, Type 1	Ventriculomegaly, Occipital encephalocele, Intrauterine growth retardation, Large placenta, Dilat...	OMIM:249000
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, O...	OMIM:617296
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su...	OMIM:610688
Treacher-Collins Syndrome	Blepharospasm, Branchial fistula, Downslanted palpebral fissures, Encephalocele, Eyelid coloboma,...	ORPHA:861
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Umbilical hernia, Inguinal hernia, Microphthalmia, Lens coloboma	OMIM:618914
Treacher Collins Syndrome 3	Lower eyelid coloboma, Downslanted palpebral fissures	OMIM:248390
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia	OMIM:603471
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:98863
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Bilateral microphthalmos	ORPHA:77299
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce...	ORPHA:98853
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Ptosis, Lateral ventricle dilatation	OMIM:619972
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Curry-Jones Syndrome	Microphthalmia, Ventriculomegaly, Optic disc coloboma, Agenesis of corpus callosum	ORPHA:1553
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Ptosis	OMIM:618731
Weiss-Kruszka Syndrome	Highly arched eyebrow, Ventriculomegaly, Downslanted palpebral fissures, Agenesis of corpus callo...	OMIM:618619
Meckel Syndrome 14	Holoprosencephaly, Occipital encephalocele, Microphthalmia	OMIM:619879
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Congenital Primary Aphakia	Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth...	ORPHA:83461
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina...	OMIM:238600
Mandibulofacial Dysostosis With Alopecia	Lower eyelid coloboma, Sparse eyelashes	OMIM:616367
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Abnormality of retinal pigmentat...	ORPHA:290
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sparse eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Downslanted palpebral fiss...	ORPHA:544488
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Ventriculomegaly, Sparse medial eyebrow, Intrauterine growth retardation, ...	OMIM:618804
2Q24 Microdeletion Syndrome	Microphthalmia, Downslanted palpebral fissures	ORPHA:1617
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Death in childhood, Death i...	OMIM:612301
Tangier Disease	Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Abnormal thalamus morphology, Downslanted palpebral fissures, Conge...	ORPHA:300570
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Lo...	OMIM:620371
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Melioidosis	Pneumonia, Hepatitis, Parotitis, Abnormality of the spleen, Respiratory tract infection, Prostati...	ORPHA:31202
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Global Developmental Delay With Or Without Impaired Intellectual Development	Long palpebral fissure, Lateral ventricle dilatation	OMIM:618330
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Chromosome 6Q24-Q25 Deletion Syndrome	Short palpebral fissure, Lateral ventricle dilatation, Hooded eyelid, Intrauterine growth retarda...	OMIM:612863
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C...	ORPHA:370022
Smith-Magenis Syndrome	Retinal detachment, Gait disturbance, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Chiari Malformation Type Ii	Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida	OMIM:207950
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Telecanthus, Macular dystrophy, Eyelid coloboma, Retinal dystrophy	ORPHA:140952
Acrofacial Dysostosis 1, Nager Type	Downslanted palpebral fissures, Lower eyelid coloboma, Absent lower eyelashes, Aganglionic megaco...	OMIM:154400
Usher Syndrome Type 1	Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment	ORPHA:231169
Pelvis-Shoulder Dysplasia	Hydranencephaly, Short palpebral fissure, Bilateral microphthalmos, Retinal coloboma, Hydrocephal...	ORPHA:2839
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:618161
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Abnormal lung lobation, Large fleshy ears, Omphalocele, Posteriorly rotated ears, P...	OMIM:263210
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Death in infancy	OMIM:617668
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum	OMIM:614833
Norrie Disease	Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal detachment, Microphthalmia, Retinal f...	OMIM:310600
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Growth delay	ORPHA:411493
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Hypopigmentation of the fundus, Long palpebral fissure, Epicanthus, Retinal detachment, Microphth...	ORPHA:163649
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Hydrocephalus, Death in infancy, Microphthalmia	ORPHA:163966
Hydrolethalus	Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Anencephaly	ORPHA:2189
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, B...	OMIM:213300
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Neonatal death	OMIM:615524
Trisomy 13	Optic atrophy, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Abn...	ORPHA:3378
Bor Syndrome	Atresia of the external auditory canal, Branchial cyst, Hearing impairment, Stenosis of the exter...	ORPHA:107
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Ventriculomegaly, Pigmentary retinopathy, Decreased nerve conduction velocity, Mic...	OMIM:610651
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination, Lateral ventricle ...	OMIM:221770
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Sparse eyelashes, Epicanthus, Keratoconjunctivitis sicca, Microphthalmia, Partial ...	OMIM:234050
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Ventriculomegaly, Upslanted palpebral fissure, Colpocephaly, Optic nerve h...	ORPHA:261250
Atelosteogenesis, Type I	Stillbirth, Encephalocele, Neonatal death	OMIM:108720
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Thoracoabdominal Syndrome	Ventral hernia, Hydrocephalus, Omphalocele, Anencephaly, Pulmonary hypoplasia	OMIM:313850
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia	OMIM:604367
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Monosomy 9Q22.3	Ventriculomegaly, Downslanted palpebral fissures, Umbilical hernia, Retinopathy, Epicanthus, Hydr...	ORPHA:77301
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Myelomeningocele, Hydrocephalus, Spina bi...	ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Posteriorly rotated ears, Spina bifida, Uplifted earlobe	OMIM:620439
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Microphthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Agnathia-Otocephaly Complex	Low-set ears, Conductive hearing impairment, Synotia, Holoprosencephaly, Pulmonary hypoplasia	OMIM:202650
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Hydrocephalus, Microphthalmia	OMIM:300863
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Developmental Delay With Variable Neurologic And Brain Abnormalities	Long palpebral fissure, Upslanted palpebral fissure, Sparse lateral eyebrow, Microphthalmia	OMIM:619694
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Ventriculomegaly, Trichiasis, Pigmentary retinopathy, Intrauterine growth ...	OMIM:618460
Dermatomyositis	Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Abnormal pulmonary inters...	ORPHA:221
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Protruding ear, Pulmonary hypoplasia	OMIM:617468
Joubert Syndrome 37	Short stature, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:619185
Diamond-Blackfan Anemia 11	Eyelid coloboma	OMIM:614900
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pheochromocytoma, Paraganglioma, Spinal hemangioblastoma, Renal cel...	OMIM:193300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Pulmonary hypoplasia	OMIM:616733
Cerebellar-Facial-Dental Syndrome	Severe short stature, Abnormal midbrain morphology, Infancy onset short-trunk short stature, Infe...	ORPHA:444072
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Intrauterine growth retardation, Death in infancy, Agenesi...	OMIM:614866
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, ...	OMIM:616546
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Degeneration of anterior horn cells	OMIM:607596
Reni Syndrome	Hypoalbuminemia, Ataxia, Hypertriglyceridemia	OMIM:617575
Warburg Micro Syndrome 3	Optic atrophy, Ventriculomegaly, Blepharophimosis, Microphthalmia	OMIM:614222
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Stromme Syndrome	Retinal vascular tortuosity, Agenesis of corpus callosum, Hydrocephalus, Stillbirth, Microphthalm...	OMIM:243605
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Facial palsy	OMIM:615085
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid...	ORPHA:64744
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Panhypopituitari...	OMIM:610828
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Death in childhood, Agenesis of corpus callosum, Blepharophimosis, Microphthalmia	OMIM:214150
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Ventriculomegaly, Lateral ventricle dilatation	OMIM:618291
Muscle-Eye-Brain Disease	Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne...	ORPHA:99889
Microphthalmia With Brain And Digit Anomalies	Chorioretinal coloboma, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Retinal dystrophy	ORPHA:139471
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Intrauterine growth retardation, Agenesis of corp...	ORPHA:79243
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal...	OMIM:601346
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Isolated Klippel-Feil Syndrome	Abnormal cranial nerve morphology, Spina bifida, Hearing impairment	ORPHA:2345
Alg3-Cdg	Abnormal pinna morphology, Hearing impairment, Neural tube defect, Pulmonary hypoplasia	ORPHA:79321
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Large earlobe, Underfolded helix, Omphalocele, Pulmonary artery atresia, Recurrent ...	OMIM:618316
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Intrauterine growth retardation, Lateral ventricle dilatation, Decreased nerve...	ORPHA:565624
Branchioskeletogenital Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Umbilical hernia, Telecanthus, Blepharocha...	ORPHA:1299
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Ventricular ...	OMIM:619306
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Intrauterine growth retardation, Death in childhood, Blepharophimosis, ...	OMIM:610758
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Intrauterine growth retardation, Agenesis of corpus callosum, Broad eyebrow, Colpocephaly, Narrow...	OMIM:620113
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Downslanted palpebral fiss...	ORPHA:464738
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Agenesis of corpus callosum	OMIM:617914
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Omphalocele, Agenesis of corpus callosum	ORPHA:93267
Pontocerebellar Hypoplasia, Type 13	Epicanthus, Long eyelashes, Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Abnormal cerebellum morphology	ORPHA:255182
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Omphalocele, Pulmonary hypoplasia	ORPHA:3035
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Short palpebral fissure, Downslanted palpebral fissures, Decreased response to ...	OMIM:617260
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Death in infancy, ...	OMIM:619135
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner...	ORPHA:705
Mmep Syndrome	Microphthalmia	ORPHA:3434
Femoral-Facial Syndrome	Ventriculomegaly, Inguinal hernia, Encephalocele, Agenesis of corpus callosum, Upslanted palpebra...	OMIM:134780
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:284417
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon, Intrauterine growth retardation, Downslanted palpebral fis...	ORPHA:1438
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus ...	OMIM:619244
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Upslanted palpebral fissure, Lateral ventricle dilatation	OMIM:615716
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Neonatal death	OMIM:610015
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Microphthalmia	OMIM:309801
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Cohen Syndrome	Optic atrophy, Downslanted palpebral fissures, Long eyelashes, Intrauterine growth retardation, T...	ORPHA:193
Developmental And Epileptic Encephalopathy 1	Ventriculomegaly, Microphthalmia	OMIM:308350
Adams-Oliver Syndrome 1	Ventriculomegaly, Encephalocele, Microphthalmia	OMIM:100300
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper...	OMIM:120330
Refsum Disease	Abnormality of retinal pigmentation, Ptosis, Retinopathy, Microphthalmia	ORPHA:773
Holoprosencephaly 9	Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu...	OMIM:610829
Marden-Walker Syndrome	Intrauterine growth retardation, Inguinal hernia, Agenesis of corpus callosum, Epicanthus, Ptosis...	OMIM:248700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Hydranencephaly, Pulmonary hypoplasia	OMIM:236500
Trisomy 18	Intrauterine growth retardation, Abnormality of retinal pigmentation, Epicanthus, Spina bifida, O...	ORPHA:3380
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Upslanted palpebral fissure, Retinopathy, Abnorma...	ORPHA:2526
Phace Association	Optic atrophy, Increased retinal vascularity, Horner syndrome, Microphthalmia, Dandy-Walker malfo...	OMIM:606519
Thanatophoric Dysplasia	Low-set ears, Hydrocephalus, Hearing impairment, Pulmonary hypoplasia	ORPHA:2655
Werner Syndrome	Elevated hemoglobin A1c, Retinal degeneration, Hypertriglyceridemia	OMIM:277700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Increased total bilirubin, Increased circulating ferritin concentration,...	OMIM:603553
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Epicanthus, Synophrys	OMIM:620075
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Umbilical hernia, Inguinal hernia, Retinoblastoma, Agenesis of corpus cal...	OMIM:613884
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:602200
Aicardi Syndrome	Optic atrophy, Ventriculomegaly, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc colob...	ORPHA:50
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated third ventricle, Dilated fourth ventricle, Intrauterine growth retardat...	OMIM:615574
Microphthalmia, Syndromic 8	Short palpebral fissure, Blepharophimosis, Microphthalmia	OMIM:601349
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Warburg Micro Syndrome 4	Optic atrophy, Ptosis, Decreased motor nerve conduction velocity, Microphthalmia	OMIM:615663
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Achondrogenesis Type 2	Hearing impairment, Pulmonary hypoplasia	ORPHA:93296
Curry-Jones Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Blepharophimosis, Lipomyelomeningocele, Microphtha...	OMIM:601707
Micro Syndrome	Optic atrophy, Retinal coloboma, Intrauterine growth retardation, Abnormality of retinal pigmenta...	ORPHA:2510
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Branchial fistula, Branchial cyst, Cupped ear, Conductive hear...	OMIM:113650
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Omphalocele, Pulmonary hypoplasia	OMIM:617895
Intellectual Developmental Disorder, Autosomal Dominant 56	Upslanted palpebral fissure, Ptosis, Lateral ventricle dilatation	OMIM:617854
Monosomy 18P	Ptosis, Epicanthus, Holoprosencephaly, Microphthalmia	ORPHA:1598
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Horizontal eyebrow, Retinal coloboma, Epicanthus, Narrow palpebral fissure, Microphthalmia	OMIM:618571
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Epicanthus, Ptos...	OMIM:614230
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD...	OMIM:278000
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation, Telecanthus, Lower eyelid coloboma, Epicanthus, Blepharophimosis, N...	OMIM:181270
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Chromosome 1Q41-Q42 Deletion Syndrome	Ventriculomegaly, Sparse eyebrow, Downslanted palpebral fissures, Upslanted palpebral fissure, Mi...	OMIM:612530
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly,...	OMIM:301043
Paganini-Miozzo Syndrome	Lateral ventricle dilatation, Downslanted palpebral fissures	OMIM:301025
Treacher Collins Syndrome 1	Bilateral microphthalmos, Downslanted palpebral fissures, Lower eyelid coloboma, Upper eyelid col...	OMIM:154500
Colonic Atresia	Gastroschisis, Omphalocele	ORPHA:1198
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Short palpebral fissure, Optic disc coloboma, Downslanted palpebral fissures, I...	ORPHA:251014
Galloway-Mowat Syndrome 1	Optic atrophy, Ventriculomegaly, Hypoplasia of the iris, Intrauterine growth retardation, Hiatus ...	OMIM:251300
Primary Pulmonary Hypoplasia	Low-set ears, Abnormal pulmonary artery morphology, Pneumothorax, Recurrent respiratory infection...	ORPHA:2257
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Gm1 Gangliosidosis	Optic atrophy, Cherry red spot of the macula, Inguinal hernia, Aplasia/Hypoplasia of the abdomina...	ORPHA:354
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia	OMIM:612379
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Facial palsy, Pulmonary hypoplasia	OMIM:255320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly	ORPHA:77298
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:1486
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropathy, Decreased numbe...	OMIM:256850
Postaxial Acrofacial Dysostosis	Ectropion, Eyelid coloboma, Downslanted palpebral fissures	OMIM:263750
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Intrauterine growth retardation, Neonatal death, Microphthalmia, Aqueduc...	OMIM:251230
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Intrauterine growth retardation, Upslanted palpebral fissure, Blepharophimosis, ...	ORPHA:1352
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia	ORPHA:528
Deafness, X-Linked 7	Ptosis, Telecanthus, Thick eyebrow, Unilateral microphthalmos	OMIM:301018
Neutral Lipid Storage Disease With Ichthyosis	Difficulty walking, Abnormal circulating creatine kinase concentration, Ataxia, Hypertriglyceridemia	ORPHA:98907
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Inguinal hernia, Microphthalmia	ORPHA:1135
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebella...	ORPHA:163961
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,...	ORPHA:412
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Microphthalmia, Retinal coloboma	ORPHA:2328
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Inguinal hernia, Agenesis of corpus callosum, E...	OMIM:616449
Gracile Bone Dysplasia	Aniridia, Hydrocephalus, Death in infancy, Microphthalmia	OMIM:602361
X-Linked Intellectual Disability, Wilson Type	Inguinal hernia, Lateral ventricle dilatation	ORPHA:85290
Glutaric Acidemia I	Lateral ventricle dilatation, Hydrocephalus, Symmetrical progressive peripheral demyelination	OMIM:231670
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth ret...	ORPHA:572798
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Abnormal thalamus morphology, Bilateral ptosis, Downslanted palpebral fiss...	ORPHA:404440
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Kagami-Ogata Syndrome	Diastasis recti, Inguinal hernia, Omphalocele, Microtia, Pulmonary hypoplasia	OMIM:608149
Distal Deletion 10Q	Lateral ventricle dilatation, Downslanted palpebral fissures, Facial diplegia, Upslanted palpebra...	ORPHA:96148
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Ventriculomegaly, Short palpebral fissure, Retinal coloboma, Almond-shaped palpebral fissure, Age...	ORPHA:508498
Camptodactyly Syndrome, Guadalajara Type 1	Low-set, posteriorly rotated ears, Attached earlobe, Spina bifida, Microtia	ORPHA:1327
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Inguinal hernia, Microphthalmia	ORPHA:3191
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI	OMIM:607131
Lumbar Syndrome	Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M...	ORPHA:83628
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Nasopalpebral Lipoma-Coloboma Syndrome	Hamartoma of the orbital region, Sparse eyebrow, Bilateral microphthalmos, Lacrimal punctal atres...	ORPHA:2399
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Ptosis, Retinal detachment, Microphthalmia	ORPHA:2712
Sweeney-Cox Syndrome	Upper eyelid coloboma	OMIM:617746
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Thin eyebrow...	OMIM:615485
Arima Syndrome	Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Brainstem dysplasia, Dil...	OMIM:243910
Familial Chylomicronemia Syndrome	Lipemia retinalis, Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyce...	ORPHA:444490
Bartsocas-Papas Syndrome 2	Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:619339
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Retinal coloboma, Epicanthus, Aganglionic megacolon, Palpebral fissure nar...	OMIM:607323
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anophthalmia, Microphthalmia, Holoprosence...	OMIM:147250
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Poland Syndrome	Spina bifida occulta, Encephalocele, Retinal hamartoma	ORPHA:2911
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Lymphoma, Colon cancer, Sialadenitis, Orchitis, Prostatitis, Abnormality of...	ORPHA:449563
Genitourinary And/Or Brain Malformation Syndrome	Short palpebral fissure, Epicanthus inversus, Upslanted palpebral fissure, Agenesis of corpus cal...	OMIM:618820
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Roberts-Sc Phocomelia Syndrome	Downslanted palpebral fissures, Microphthalmia, Eyelid coloboma, Shallow orbits, Hydrocephalus, F...	OMIM:268300
Microphthalmia, Syndromic 16	Ankyloblepharon, Anophthalmia, Microphthalmia	OMIM:611038
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum	ORPHA:79279
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Highly arched eyebrow, Downslanted palpebral fissures, Colpocephaly, Blepharophimosis, Optic disc...	OMIM:620083
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Horizontal eyebrow, Bilateral microphthalmos, Umbilical hernia, Upslanted palpebral fissure, Epic...	ORPHA:369891
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Absent vas deferens, Abnormality of exocrine pancreas physiology, Hepatic steatosis,...	ORPHA:93111
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Hypertriglyceridemia	ORPHA:79083
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Inguinal hernia, Agenesis of corpus callosum, Epicanthus, Hydroc...	ORPHA:250989
Isolated Arrhinia	Eyelid coloboma, Microphthalmia	ORPHA:1134
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Tetrasomy 5P	Low-set ears, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus, Recurrent resp...	ORPHA:3309
Smith-Lemli-Opitz Syndrome	Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Intrauterine growth retardation,...	ORPHA:818
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature, Occ...	OMIM:277170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Ventriculomegaly, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy,...	OMIM:253280
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Long eyelashes, Ptosis, Microphthalmia, Long eyebrows, S-shaped palpebral fissures	OMIM:201180
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Dubowitz Syndrome	Short palpebral fissure, Sparse lateral eyebrow, Hypoplasia of the iris, Intrauterine growth reta...	OMIM:223370
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Fanconi Anemia, Complementation Group S	Long eyelashes, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Microphthalmia	OMIM:617883
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:260370
Waardenburg Syndrome Type 1	Hearing impairment, Congenital sensorineural hearing impairment, Aganglionic megacolon, Spina bif...	ORPHA:894
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Low-set ears, Congenital pulmonary airway malformation, Bilateral lung agenesis, Pulmonary artery...	OMIM:611812
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Renal Hypodysplasia/Aplasia 1	Low-set ears, Pulmonary hypoplasia	OMIM:191830
Seckel Syndrome 10	Elevated hemoglobin A1c, Retinal detachment, Hypertriglyceridemia	OMIM:617253
Sotos Syndrome	Small cell lung carcinoma, Neoplasm, Decreased fertility, Cryptorchidism, Acute lymphoblastic leu...	ORPHA:821
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Umbilical hernia, Downslanted palpebral fissures,...	OMIM:277590
Aicardi-Goutieres Syndrome 9	Chorioretinal atrophy, Optic atrophy, Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation, Retinal degeneration, Peripheral axonal neuro...	ORPHA:2822
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Death in childhood, Microphthalmia	OMIM:610756
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Tubulinopathy-Associated Dysgyria	Abnormal brainstem morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia	ORPHA:467166
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Sparse eyebrow, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure, Epica...	OMIM:620098
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Severe sensorineural hearing impairment	ORPHA:2003
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Epicanthus, Facial diplegia, Microphthalmia	OMIM:157900
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi...	OMIM:615710
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma...	ORPHA:52368
Fetal Alcohol Syndrome	Intrauterine growth retardation, Telecanthus, Epicanthus, Ptosis, Microphthalmia	ORPHA:1915
Bone Marrow Failure Syndrome 3	Exocrine pancreatic insufficiency, Cryptorchidism, Hyperechogenic pancreas, Acute myeloid leukemi...	OMIM:617052
Craniofacial Microsomia 1	Occipital encephalocele, Branchial anomaly, Anophthalmia, Agenesis of corpus callosum, Upper eyel...	OMIM:164210
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Gastro...	ORPHA:237
Mosaic Trisomy 1	Lateral ventricle dilatation, Downslanted palpebral fissures, Congenital bilateral ptosis, Agenes...	ORPHA:1692
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Pleural effusion, Posteriorly rotated ears, Pulmonary hypoplasia	OMIM:616897
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Meningocele, Hearing abnormality, Protruding ear	ORPHA:2031
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Aicardi-Goutières Syndrome	Ventriculomegaly, Ptosis, Eyelid coloboma	ORPHA:51
Martsolf Syndrome 1	Ventriculomegaly, Downslanted palpebral fissures, Inguinal hernia, Epicanthus, Enlarged sylvian c...	OMIM:212720
Focal Dermal Hypoplasia	Chorioretinal coloboma, Umbilical hernia, Hypoplasia of the iris, Diastasis recti, Inguinal herni...	ORPHA:2092
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Mitral valve prolapse, Cerebellar hypoplasia,...	OMIM:616202
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop...	OMIM:608940
Cousin Syndrome	Hydranencephaly, Short palpebral fissure, Hydrocephalus, Blepharophimosis, Narrow palpebral fissu...	OMIM:260660
Chédiak-Higashi Syndrome	Ataxia, Increased circulating ferritin concentration, Inability to walk, Abnormality of retinal p...	ORPHA:167
Joubert Syndrome 38	Short stature, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth s...	OMIM:619476
Hallermann-Streiff Syndrome	Sparse eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Optic disc coloboma, Spar...	OMIM:234100
Short Tarsus With Absence Of Lower Eyelashes	Hypoplasia of the lower eyelids, Absent lower eyelashes	OMIM:600269
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Myocardial necrosis, Abnormal medulla oblongata morphology, Abnorma...	ORPHA:68
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Agenesis of corpus callosum, Abnormal nasolacr...	ORPHA:2556
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microphthalmia	OMIM:617244
Severe Congenital Nemaline Myopathy	Low-set ears, Facial palsy, Facial diplegia, Pulmonary hypoplasia	ORPHA:171430
Monosomy 13Q14	Intrauterine growth retardation, Retinoblastoma, Epicanthus, Ptosis, Microphthalmia, Holoprosence...	ORPHA:1587
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures	OMIM:619981
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Retinal detachment, Remnants of the hyaloid vascular system, Mic...	ORPHA:2714
Acrocephalopolydactylous Dysplasia	Low-set ears, Omphalocele, Extrapulmonary lobar sequestration, Abnormal pinna morphology, Pulmona...	OMIM:200995
Incontinentia Pigmenti	Umbilical hernia, Retinal vascular proliferation, Retinal detachment, Microphthalmia, Retinal hem...	ORPHA:464
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ventriculomegaly, Bilateral microphthalmos, Intrauterine growth retardation, Attenuation of retin...	ORPHA:468631
Cat Eye Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Umbilical hernia, Epicanthus, Microphthalmia	OMIM:115470
Cryptococcosis	Pneumonia, Neoplasm, Pleural effusion, Nodular pattern on pulmonary HRCT, Peritonitis, Cirrhosis,...	ORPHA:1546
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation, Retinal coloboma	OMIM:244300
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma...	OMIM:609049
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Decreased response to growth hormone stimulation test, Prostatitis, Enteroviral hepati...	OMIM:307200
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology	ORPHA:79139
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Optic atrophy, Unilateral narrow palpebral fissure	OMIM:618727
Microphthalmia, Lenz Type	Ankyloblepharon, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:568
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Dilated third ventricle	ORPHA:314404
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Lateral Meningocele Syndrome	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Umbilical he...	ORPHA:2789
Gabriele-De Vries Syndrome	Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Intrauterine growth...	OMIM:617557
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Lateral ventricle dilatation, Dilated fourth ventricle, Narrow palpebral fissure,...	OMIM:619869
Mosaic Trisomy 9	Ventriculomegaly, Intrauterine growth retardation, Upslanted palpebral fissure, Spina bifida, Mic...	ORPHA:99776
Cerebrocostomandibular Syndrome	Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory canal, Myelomeni...	ORPHA:1393
Congenital Disorder Of Glycosylation, Type Iig	Upslanted palpebral fissure, Intrauterine growth retardation, Lateral ventricle dilatation, Downs...	OMIM:611209
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Umbilical hernia, Hearing abnorm...	ORPHA:2990
Short-Rib Thoracic Dysplasia 12	Low-set ears, Atelectasis, Inguinal hernia, Anencephaly, Hydrocephalus, Omphalocele, Holoprosence...	OMIM:269860
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Downslanted palpebral fissures, Intrauterine grow...	OMIM:619229
Galloway-Mowat Syndrome 3	Ventriculomegaly, Downslanted palpebral fissures, Intrauterine growth retardation, Hiatus hernia,...	OMIM:617729
Tetraamelia Syndrome 1	Low-set ears, Hydrocephalus, Peripheral pulmonary vessel aplasia, Gastroschisis, Pulmonary hypopl...	OMIM:273395
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph...	ORPHA:98755
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Hypoplasia of the iri...	OMIM:133540
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Atelosteogenesis, Type Ii	Pulmonary hypoplasia	OMIM:256050
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Telecanthus, Ptosis, Blepharophimosis, Narrow palpebral fissure, Microphth...	OMIM:110100
Microphthalmia With Limb Anomalies	Optic atrophy, Abnormal eyebrow morphology, True anophthalmia, Death in infancy, Blepharophimosis...	ORPHA:1106
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Faundes-Banka Syndrome	Downslanted palpebral fissures, Intrauterine growth retardation, Hypoplasia of the lower eyelids,...	OMIM:619376
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Intrauterine growth retardation,...	OMIM:616975
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Pulmonary hypoplasia, Cupped ear, Sensorineural hearing ...	ORPHA:314588
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology, Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Micro...	ORPHA:435638
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Abnormal heart morphology, Molar tooth sign on MRI, Short stature, ...	ORPHA:2754
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Death in childhood, Microphthalmia	OMIM:301108
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Trichothiodystrophy	Ventriculomegaly, Macular degeneration, Bilateral microphthalmos, Umbilical hernia, Intrauterine ...	ORPHA:33364
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Unilateral ptosis, Bilateral microphthalmos	OMIM:619318
Alstrom Syndrome	Pigmentary retinopathy, Attenuation of retinal blood vessels, Hypertriglyceridemia, Hyperuricemia...	OMIM:203800
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Epididymitis, Recurrent sinusitis, Prostatitis, Bronchiolitis obliterans, En...	OMIM:300755
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Pulmonary hypoplasia	OMIM:312150
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Epicanthus, Chordee, Abnormal internal...	ORPHA:1772
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration	ORPHA:95433
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Microphthalmi...	OMIM:156610
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79240
Triploidy	Low-set, posteriorly rotated ears, Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Noonan Syndrome 14	Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Epicanthus, Lacrima...	OMIM:619745
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Phthisis bulbi, Buphthalmos, Remnants of the hyaloid vascular system, Micr...	OMIM:221900
Steinfeld Syndrome	Microphthalmia, Holoprosencephaly, Retinal coloboma	OMIM:184705
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Pulmonary hypoplasia	ORPHA:85166
Neurooculocardiogenitourinary Syndrome	Epicanthus, Microphthalmia	OMIM:618652
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Neoplasm, Cryptorchidism, Pseudo...	ORPHA:116
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Neutral Lipid Storage Disease With Myopathy	Difficulty walking, Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:610717
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Ventriculomegaly, Decreased response to growth hormone stimulation test, Severe i...	OMIM:241410
Microphthalmia With Limb Anomalies	Short palpebral fissure, Downslanted palpebral fissures, Anophthalmia, Blepharophimosis, Micropht...	OMIM:206920
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly, Pulmonary hypoplasia	ORPHA:250999
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral ventric...	ORPHA:1855
Phace Syndrome	Retinal vascular malformation, Agenesis of corpus callosum, Ptosis, Microphthalmia, Abnormality o...	ORPHA:42775
Diaphanospondylodysostosis	Low-set ears, Inguinal hernia, Pulmonary hypoplasia	OMIM:608022
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:264580
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ...	ORPHA:470
Fetal Akinesia Deformation Sequence	Posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:994
Microphthalmia, Syndromic 9	Low-set ears, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesi...	OMIM:601186
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:613327
22Q11.2 Deletion Syndrome	Optic atrophy, Umbilical hernia, Downslanted palpebral fissures, Retinal arteriolar tortuosity, I...	ORPHA:567
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Fountain Syndrome	Spina bifida occulta, Spina bifida, Sensorineural hearing impairment	ORPHA:3219
Scalp-Ear-Nipple Syndrome	Palpebral edema, Telecanthus, Eyelid coloboma	ORPHA:2036
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Hypothalamic hamartoma, Anterior ...	OMIM:206900
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic a...	OMIM:137920
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Pulmonary hypoplasia	OMIM:253290
Hypoglossia-Hypodactyly Syndrome	Telecanthus, Abnormal cranial nerve morphology, Gastroschisis, Death in infancy	ORPHA:989
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Retinal coloboma, Dilated fourth ventricle, Telecanthus, Upslanted palpe...	ORPHA:434179
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morphology, Cerebellar vermis hypop...	ORPHA:370997
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Hypogonadism, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Os...	OMIM:268400
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia	OMIM:614225
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Trichothiodystrophy 3, Photosensitive	Ectropion, Intrauterine growth retardation, Microphthalmia	OMIM:616395
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Death in childhood	OMIM:619847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal helix morphology, Spina bifida	ORPHA:1120
Cog5-Cdg	Intrauterine growth retardation, Neurogenic bladder, Lateral ventricle dilatation	ORPHA:263487
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon	OMIM:601374
Lethal Congenital Contracture Syndrome 10	Low-set ears, Omphalocele, Pulmonary hypoplasia	OMIM:617022
Histiocytoid Cardiomyopathy	Optic atrophy, Congenital aphakia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia	ORPHA:137675
Ohdo Syndrome, X-Linked	Sparse eyebrow, Downslanted palpebral fissures, Inguinal hernia, Hiatus hernia, Epicanthus, Ptosi...	OMIM:300895
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Microphthalmia	OMIM:618494
Atelis Syndrome 2	Short palpebral fissure, Dacryocystocele, Epicanthus, Vitreous hemorrhage, Remnants of the hyaloi...	OMIM:620185
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Recurrent respiratory i...	OMIM:208500
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Epic...	ORPHA:959
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Microphthalmi...	OMIM:302960
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Spina bifida occulta, Meningocele, Umbilical hernia	ORPHA:2311
Microsporidiosis	Pneumonia, Bronchiolitis, Hepatitis, Abnormality of the parathyroid gland, Bronchitis, Abnormalit...	ORPHA:2552
Treacher Collins Syndrome 2	Lower eyelid coloboma, Downslanted palpebral fissures	OMIM:613717
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Fanconi Anemia	Ventriculomegaly, Short palpebral fissure, Umbilical hernia, Intrauterine growth retardation, Ups...	ORPHA:84
Neuroocular Syndrome 1	Hooded upper eyelid, Highly arched eyebrow, Downslanted palpebral fissures, Umbilical hernia, Lon...	OMIM:619539
Secondary Short Bowel Syndrome	Aganglionic megacolon, Gastroschisis	ORPHA:95427
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypothyroidism, Pancreati...	OMIM:616263
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Ptosis, Blepharophimosis, Microphthalmia	ORPHA:2728
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Thin eyebrow, Intrauterine growth retardation, Telecanthus, Delayed peri...	ORPHA:364577
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Endolymphatic sac tumor, Adrenal pheochromocytoma, Pancreatic islet...	ORPHA:892
Prader-Willi Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:176270
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Intrauterine growth retardation, Epicanthus, Mi...	ORPHA:1052
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Teebi Hypertelorism Syndrome 1	Omphalocele, Pulmonary hypoplasia	OMIM:145420
Renal Agenesis, Bilateral	Low-set ears, Sirenomelia, Pulmonary hypoplasia	ORPHA:1848
Atelosteogenesis Type I	Pulmonary hypoplasia, Abnormal pancreatic duct morphology	ORPHA:1190
Focal Dermal Hypoplasia	Optic atrophy, Chorioretinal coloboma, Umbilical hernia, Myelomeningocele, Aniridia, Diastasis re...	OMIM:305600
Amish Lethal Microcephaly	Optic atrophy, Spina bifida	ORPHA:99742
Incontinentia Pigmenti	Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal detachment, Micro...	OMIM:308300
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Glycogen Storage Disease Ib	Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepatomegaly, Hepatocellular carcinoma	OMIM:232220
Lateral Meningocele Syndrome	Low-set ears, Conductive hearing impairment, Umbilical hernia, Hydrocephalus, Abnormality of the ...	OMIM:130720
Aceruloplasminemia	Elevated hepatic iron concentration, Abnormal pancreas morphology	ORPHA:48818
Vater/Vacterl Association	Intrauterine growth retardation, Patent urachus, Occipital encephalocele, Spina bifida	OMIM:192350
Fryns Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Aganglionic megacolon, Omphalocele, Microphthalmia...	ORPHA:2059
Microphthalmia, Syndromic 2	Umbilical hernia, Thick eyebrow, Anophthalmia, Laterally curved eyebrow, Phthisis bulbi, Ptosis, ...	OMIM:300166
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Basal Cell Nevus Syndrome 1	Microphthalmia, Hydrocephalus, Spina bifida, Orbital cyst	OMIM:109400
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus	ORPHA:2720
Oligomeganephronia	Branchial cyst, Hearing impairment, Optic disc coloboma, Pulmonary venous occlusion, Pulmonary hy...	ORPHA:2260
Stevenson-Carey Syndrome	Microphthalmia, Downslanted palpebral fissures	OMIM:611961
Thanatophoric Dysplasia, Type I	Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Oculodentodigital Dysplasia, Autosomal Recessive	Short palpebral fissure, Downslanted palpebral fissures, Telecanthus, Sparse eyelashes, Epicanthu...	OMIM:257850
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Facial hemangioma, Supernumerary nipple	OMIM:605039
47,Xyy Syndrome	Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydroce...	ORPHA:8
Mend Syndrome	Abnormal auditory evoked potentials, Telecanthus, Upslanted palpebral fissure, Hydrocephalus, Mic...	ORPHA:401973
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Abnormal circulating lipid concentration, Cherry red spot of the macula, Increased LDL ch...	ORPHA:77293
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI	OMIM:617563
Cockayne Syndrome Type 3	Abnormality of peripheral nerve conduction, Retinal degeneration, Peripheral axonal neuropathy, R...	ORPHA:90324
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Agenesis of corpus callosum, Omphalocele, Stillbirth, Microphtha...	OMIM:236680
Fanconi Anemia, Complementation Group D2	Annular pancreas, Cryptorchidism, Micropenis, Leukemia, Hypergonadotropic hypogonadism	OMIM:227646
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Microphthalmia	OMIM:127000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Downslanted palpebral fissures	ORPHA:457279
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori...	OMIM:611584
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Death in infancy, Epicanthus, Colpocephaly, Ptosis, Aganglionic ...	OMIM:270400
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Intrauterine growth retardation, Thick eyebrow, Epicanthus, Rod-con...	OMIM:300896
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Hamartoma of tongue, Ambiguous genitalia, Pancreatic fibrosis, Micropenis, Pulm...	OMIM:263520
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ...	ORPHA:185
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Lateral ventricle dilatation, Intrauterine growth retardation, Death in childhood...	OMIM:210710
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Myelodysplasia	ORPHA:1318
Neutral Lipid Storage Myopathy	Difficulty walking, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98908
Trisomy 8P	Recurrent upper respiratory tract infections, Peripheral pulmonary artery stenosis, Annular pancr...	ORPHA:264450
Fanconi Anemia, Complementation Group L	Upslanted palpebral fissure, Intrauterine growth retardation, Hydrocephalus, Microphthalmia	OMIM:614083
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia	ORPHA:275761
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Gait ataxia, Dysmetria, Hypercholesterolemia, Hypertriglyceridemia, Dysdi...	OMIM:606721
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation, Blepharophimosis	ORPHA:293725
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Pulmonary hypoplasia	OMIM:314390
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Downslanted palpebral fissures	OMIM:614526
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Macular atrophy, Hypertriglyceridemia	OMIM:619418
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Intrauterine...	ORPHA:177907
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Pulmonary hypoplasia	OMIM:151210
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Achondroplasia	Recurrent otitis media, Conductive hearing impairment, Hydrocephalus, Pulmonary hypoplasia	OMIM:100800
8Q21.11 Microdeletion Syndrome	Downslanted palpebral fissures, Epicanthus, Ptosis, Blepharophimosis, Microphthalmia	ORPHA:284160
Trisomy 20P	Umbilical hernia, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Protruding ea...	ORPHA:261318
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse eyebrow, Lacrimal duct aplasia, Branchial cyst, Optic disc coloboma, Downslanted palpebral...	OMIM:620186
Feingold Syndrome	Abnormality of the spleen, Annular pancreas	ORPHA:1305
Igg4-Related Kidney Disease	Abnormal mesentery morphology, Sialadenitis, Interstitial pneumonitis, Cholecystitis, Sclerosing ...	ORPHA:449395
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Intrauterine growth re...	OMIM:146510
Skin Creases, Congenital Symmetric Circumferential, 2	Ventriculomegaly, Short palpebral fissure, Downslanted palpebral fissures, Upslanted palpebral fi...	OMIM:616734
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:958
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Downslanted palpebral fissures, Sparse eyebrow, Sparse eyelashes	ORPHA:35173
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Abnormal brainstem morphology, Intrauterine growth retardation, Cerebellar hy...	OMIM:301310
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Pulmonary hypoplasia	OMIM:231680
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Renal-Hepatic-Pancreatic Dysplasia 2	Pulmonary hypoplasia, Abnormal lung lobation	OMIM:615415
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Pulmonary hypoplasia	ORPHA:2847
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilical hernia, Emphyse...	OMIM:613177
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79259
Holoprosencephaly 2	Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal...	OMIM:157170
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Heart And Brain Malformation Syndrome	Dandy-Walker malformation, Microphthalmia	OMIM:616920
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Disproportionate short-limb short stature, Molar tooth sign ...	OMIM:619479
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Telecanthus, Dandy-Walker malformation, Microphthalmia	ORPHA:2612
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Epiblepharon, Lateral ventricle dilatation, Thick eyebrow, Short umbilical cord	OMIM:618367
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Decreased nerve conductio...	ORPHA:191
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Horizontal eyebrow, Lateral ventricle dilatation, Optic disc coloboma, Downslanted...	OMIM:607872
Fliedner-Zweier Syndrome	Meningocele	OMIM:620511
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Raine Syndrome	Low-set ears, Protruding ear, Hydrocephalus, Mixed hearing impairment, Posteriorly rotated ears, ...	OMIM:259775
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Microphthalmia, Ectropion, Conjunctivitis	OMIM:278730
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Colpocephaly, Synophrys	ORPHA:477993
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tort...	OMIM:175780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Cupped ear, Large fleshy ears, Overfolded helix, Posteriorly rotated ears, Pulmonar...	OMIM:614080
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Ventriculomegaly, Progressive ventriculomegaly, Sparse eyebrow, Lateral ventricle ...	ORPHA:500150
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Pulmonary hypoplasia	OMIM:616866
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Branchial cyst, Bilateral microphthalmos, Ret...	ORPHA:508488
Nephronophthisis 13	Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts	OMIM:614377
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Premature Aging Syndrome, Penttinen Type	Hypermyelinated retinal nerve fibers, Shallow orbits, Microphthalmia	OMIM:601812
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Sensorineural hearing impairment, Op...	OMIM:214100
Genitopatellar Syndrome	Low-set ears, Hearing impairment, Pulmonary hypoplasia	ORPHA:85201
Schinzel-Giedion Syndrome	Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Streak ovary, Ependymoma, Teratoma...	ORPHA:798
Necrotizing Enterocolitis	Gastroschisis	ORPHA:391673
Alagille Syndrome 1	Pigmentary retinopathy, Hypercholesterolemia, Chorioretinal atrophy, Hypertriglyceridemia	OMIM:118450
Fontaine Progeroid Syndrome	Short palpebral fissure, Aplastic/hypoplastic lacrimal glands, Umbilical hernia, Downslanted palp...	OMIM:612289
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Oculocerebrorenal Syndrome Of Lowe	Ventriculomegaly, Umbilical hernia, Upslanted palpebral fissure, Inguinal hernia, Death in infanc...	ORPHA:534
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent...	OMIM:610199
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Shallow orbits, Microphthalmia	OMIM:617306
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Conductive hearing impairment, Umbilical hernia, Exostosis of the external auditory...	OMIM:265000
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Medulloblastoma, Nephroblastoma, Recurrent respiratory infections	ORPHA:97297
Congenital Myopathy 17	Low-set ears, Respiratory tract infection, Pulmonary hypoplasia	OMIM:618975
Fryns Syndrome	Hypospadias, Chylothorax, Polysplenia, Bifid scrotum, Cryptorchidism, Shawl scrotum, Bicornuate u...	OMIM:229850
Familial Multiple Lipomatosis	Hyperlipidemia, Chorioretinitis	ORPHA:199276
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Tangier Disease	Hypocholesterolemia, Hypertriglyceridemia	ORPHA:31150
Neu-Laxova Syndrome	Spina bifida, Macrotia, Pulmonary hypoplasia	ORPHA:2671
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Prune belly, Pulmonary hypoplasia, Sensorineural hearing impairment	OMIM:619351
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Papilledema, Retinal calcification, Bilateral microphthalmos	ORPHA:93325
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atelectasis, Peripapillary atrophy, Hydrocephalus, Mixed hearing impairment, Poster...	ORPHA:536467
Gaucher Disease, Perinatal Lethal	Low-set ears, Pulmonary hypoplasia, Microtia	OMIM:608013
Chromosome 17P13.1 Deletion Syndrome	Posteriorly rotated ears, Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Monosomy 9P	Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure...	ORPHA:261112
Mosaic Trisomy 16	Hearing impairment, Large placenta, Abnormal ear morphology, Abnormal lung morphology, Pulmonary ...	ORPHA:1708
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Death in infancy, Microphthalmia	OMIM:601675
Kabuki Syndrome 1	Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Prominent eyel...	OMIM:147920
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Prostatitis, Pancreatitis, Recurrent respiratory infections,...	ORPHA:900
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Downslanted palpebral fissures	ORPHA:251038
17Q12 Microdeletion Syndrome	Cryptorchidism, Shawl scrotum, Pancreatic aplasia	ORPHA:261265
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Pearson Syndrome	Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Abnorma...	ORPHA:699
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
1P36 Deletion Syndrome	Annular pancreas, Hypogonadism, Abnormality of the spleen, Abnormality of the liver, Abnormal fem...	ORPHA:1606
Esophageal Atresia	Bronchitis, Hearing impairment, Abnormality of the ear, Omphalocele, Recurrent respiratory infect...	ORPHA:1199
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Waardenburg Syndrome, Type 1	Myelomeningocele, Congenital sensorineural hearing impairment, Spina bifida	OMIM:193500
Tarp Syndrome	Optic atrophy, Prominent antihelix, Hearing impairment, Low-set, posteriorly rotated ears, Abnorm...	ORPHA:2886
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis...	ORPHA:1435
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Charge Syndrome	Downslanted palpebral fissures, Umbilical hernia, Retinal coloboma, Unilateral microphthalmos, De...	OMIM:214800
Lymphedema-Distichiasis Syndrome	Distichiasis, Ptosis, Microphthalmia, Ectropion, Conjunctivitis	OMIM:153400
Keppen-Lubinsky Syndrome	Abnormally large globe, Shallow orbits, Lateral ventricle dilatation	OMIM:614098
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Hepatic cysts, Reduced sperm motility, Pancreatic cysts, P...	ORPHA:730
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia	OMIM:619573
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Pancreatic cysts, Bile d...	OMIM:267010
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Spontaneous pneumothorax, Recurrent pneumonia, Cholestasis...	ORPHA:731
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Bardet-Biedl Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Cone/cone-rod dystrophy, Ataxia, R...	ORPHA:110
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Pulmonary hypoplasia	ORPHA:96179
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Glycerol Kinase Deficiency	Hyperglycerolemia, Hypertriglyceridemia	OMIM:307030
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Trichiasis, Downslanted palpebral fissures, Intrauterine growth retardatio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Trichiasis, Downslanted palpebral fissures, Intrauterine growth retardatio...	ORPHA:353277
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Pancreatic fibrosis	OMIM:557000
Distal Deletion 12Q	Annular pancreas, Pituitary adenoma, Biliary atresia, Micropenis, Unilateral cryptorchidism	ORPHA:96149
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Microphth...	OMIM:603467
Osteoporosis-Pseudoglioma Syndrome	Vitreoretinopathy, Phthisis bulbi, Exudative retinopathy, Microphthalmia, Retinal calcification	OMIM:259770
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Pulmonary artery dilatation, Abnormal lung lobation, Alveolar capillary dysplas...	OMIM:265380
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Achondrogenesis, Type Ia	Low-set ears, Pulmonary hypoplasia	OMIM:200600
Alg9-Cdg	Low-set ears, Large fleshy ears, Low-set, posteriorly rotated ears, Abnormal lung lobation, Ompha...	ORPHA:79328
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Pulmonary hypoplasia	OMIM:271520
Oculodentodigital Dysplasia	Short palpebral fissure, Epicanthus, Neurogenic bladder, Blepharophimosis, Microphthalmia	OMIM:164200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Colpocephaly, Short palpebral fissure	ORPHA:75857
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Teebi-Shaltout Syndrome	Highly arched eyebrow, Telecanthus, Ptosis, Microphthalmia	OMIM:272950
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Stuve-Wiedemann Syndrome 1	Low-set ears, Pulmonary arterial medial hypertrophy, Abnormal autonomic nervous system physiology...	OMIM:601559
Atypical Werner Syndrome	Retinal degeneration, Abnormality of retinal pigmentation, Hypertriglyceridemia	ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Delayed puberty, Abnormal midbrain morphology	ORPHA:293987
Pallister-Hall Syndrome	Secondary growth hormone deficiency, Umbilical hernia, Downslanted palpebral fissures, Panhypopit...	ORPHA:672
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Rodrigues Blindness	Microphthalmia	OMIM:268320
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Pulmonary hypoplasia, Hearing impairment, Optic disc coloboma, Low-set, posteriorly...	ORPHA:536471
Gangliocytoma	Abnormal brainstem morphology, Abnormal cerebellum morphology	ORPHA:251937
Atelosteogenesis Type Ii	Low-set ears, Pulmonary hypoplasia	ORPHA:56304
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Pulmonary hypoplasia, Hearing impairment, Umbilical hernia	OMIM:308050
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Branchiooculofacial Syndrome	Retinal coloboma, Intrauterine growth retardation, Telecanthus, Branchial anomaly, Upslanted palp...	OMIM:113620
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas	OMIM:618162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Upslanted palpebral fissure, Lateral ventricle dilatation, Death in infancy	OMIM:300868
3Q29 Microdeletion Syndrome	Microphthalmia, Downslanted palpebral fissures	ORPHA:65286
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Inguinal hernia, Epicanthus, Ptosis, Blepharophimosis, Microphthalmia, Antec...	OMIM:609945
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Witteveen-Kolk Syndrome	Ventriculomegaly, Short palpebral fissure, Branchial fistula, Downslanted palpebral fissures, Dec...	OMIM:613406
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia...	ORPHA:157
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Absent crus of helix, Microtia, third degree, Conduct...	ORPHA:2753
Wiedemann-Rautenstrauch Syndrome	Ataxia, Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Hypertriglyceridemia, Trunc...	ORPHA:3455
Fanconi Anemia, Complementation Group C	Epicanthus, Intrauterine growth retardation, Microphthalmia	OMIM:227645
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Nail-Patella Syndrome	Spina bifida, Sensorineural hearing impairment	OMIM:161200
Lathosterolosis	Meningocele, Hearing impairment	ORPHA:46059
Norrie Disease	Optic atrophy, Hypoplasia of the iris, Abnormal vitreous humor morphology, Abnormal retinal vascu...	ORPHA:649
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Omphalocele, Microphthalmia	ORPHA:3186
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Microtia, Pulmonary hypoplasia	OMIM:617063
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:619127
Degcags Syndrome	Ventriculomegaly, Abnormal eyebrow morphology, Intrauterine growth retardation, Long eyelashes, A...	OMIM:619488
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia...	ORPHA:228308
Meacham Syndrome	Congenital alveolar dysplasia, Scimitar anomaly, Partial anomalous pulmonary venous return, Cardi...	OMIM:608978
Diaphragmatic Hernia 4, With Cardiovascular Defects	Low-set ears, Pulmonary artery hypoplasia, Optic nerve hypoplasia, Aortopulmonary window, Pulmona...	OMIM:620025
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, H...	OMIM:256040
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Thin eyebrow, Intrauterine growth retardation, Telecanthus, Microphthalm...	OMIM:608670
Ogden Syndrome	Low-set ears, Peripheral pulmonary artery stenosis, Umbilical hernia, Recurrent otitis media, Ing...	OMIM:300855
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Mowat-Wilson Syndrome	Ventriculomegaly, Abnormal enteric ganglion morphology, Chorioretinal coloboma, Downslanted palpe...	OMIM:235730
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Fanconi Anemia, Complementation Group N	Epicanthus, Microphthalmia	OMIM:610832
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Low-set ears, Cupped ear, Spina bifida, Unilateral facial palsy, Thickened helices, Posteriorly r...	OMIM:619480
Lipodystrophy, Congenital Generalized, Type 2	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:269700
Microphthalmia, Syndromic 6	Ventriculomegaly, Anophthalmia, Orbital cyst, Microphthalmia, Anterior hypopituitarism, Retinal d...	OMIM:607932
Greenberg Dysplasia	Low-set ears, Pulmonary hypoplasia, Large placenta, Abnormal lung lobation	OMIM:215140
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Pulmonary hypoplasia, Abnormal pinna morphology, Microtia	OMIM:617925
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Unilateral microphthalmos, Sparse eyelashes	OMIM:618874
Lethal Congenital Contracture Syndrome 9	Low-set ears, Short umbilical cord, Pulmonary hypoplasia	OMIM:616503
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Synophrys, Inguinal hernia, Lacrimal duct atresia	OMIM:603457
Wiedemann-Rautenstrauch Syndrome	Truncal ataxia, Hypertriglyceridemia	OMIM:264090
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone suppression test, H...	ORPHA:189427
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Microphthalmia	ORPHA:1236
Hallermann-Streiff Syndrome	Microphthalmia, Sparse eyebrow, Telecanthus, Sparse eyelashes	ORPHA:2108
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Meningocele	ORPHA:1010
Yunis-Varon Syndrome	Sparse eyebrow, Bilateral microphthalmos, Upslanted palpebral fissure, Sparse eyelashes, Agenesis...	ORPHA:3472
Alobar Holoprosencephaly	Abnormal heart morphology, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth de...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart morphology, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth de...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart morphology, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth de...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal heart morphology, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth de...	ORPHA:220386
Blomstrand Lethal Chondrodysplasia	Low-set ears, Pulmonary hypoplasia	ORPHA:50945
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Abnormal brainstem morphology, Intrauterine growth retardation, Ventricula...	ORPHA:464311
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Microphthalmia	ORPHA:2250
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Acrorenal-Mandibular Syndrome	Low-set ears, Posteriorly rotated ears, Pulmonary hypoplasia	OMIM:200980
Phocomelia, Schinzel Type	Protruding ear, Meningocele	ORPHA:2879
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Persistent cloaca, Pulmonary hypoplasia	ORPHA:1112
Microgastria-Limb Reduction Defect Syndrome	Hiatus hernia, Microphthalmia, Anophthalmia, Agenesis of corpus callosum	ORPHA:2538
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pulmonary hypoplasia, Spinal dysraphism, Large placenta, Diastasis recti, Hernia of the abdominal...	ORPHA:96334
Myhre Syndrome	Intrauterine growth retardation, Thick eyebrow, Blepharophimosis, Narrow palpebral fissure, Micro...	OMIM:139210
Alkaptonuria	Prostatitis, Hypothyroidism, Black pigment gallstones	ORPHA:56
Fetal Akinesia Deformation Sequence 1	Low-set ears, Small placenta, Short umbilical cord, Hydrocephalus, Posteriorly rotated ears, Pulm...	OMIM:208150
Penile Agenesis	Pulmonary hypoplasia, Bilateral lung agenesis, Posteriorly rotated ears, Cloacal abnormality	ORPHA:49
Feingold Syndrome 1	Accessory spleen, Asplenia, Annular pancreas, Polysplenia	OMIM:164280
Wilson Disease	Face of the giant panda sign	OMIM:277900
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Blepharophimosis, Microphthalmia	OMIM:620005
Renpenning Syndrome 1	Sparse lateral eyebrow, Telecanthus, Death in childhood, Upslanted palpebral fissure, Epicanthus,...	OMIM:309500
Osteogenesis Imperfecta	Hearing impairment, Umbilical hernia, Progressive hearing impairment, Inguinal hernia, Hydrocepha...	ORPHA:666
Fibular Hemimelia	Spina bifida	ORPHA:93323
Absence Of The Pulmonary Artery	Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Bronchiectasis, Pulmonary...	ORPHA:980
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Biliary, Renal, Neurologic, And Skeletal Syndrome	Lateral ventricle dilatation, Inguinal hernia, Upslanted palpebral fissure, Neonatal death, Hydro...	OMIM:619534
Holoprosencephaly 1	Microphthalmia, Alobar holoprosencephaly, Ethmocephaly, Agenesis of corpus callosum	OMIM:236100
Traboulsi Syndrome	Microphthalmia, Spontaneous conjunctival filtering bleb, Downslanted palpebral fissures	OMIM:601552
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Hearing impairment, Recurrent otitis media, Protruding ear, Hydrocephalus, Spina b...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Hearing impairment, Recurrent otitis media, Protruding ear, Hydrocephalus, Spina b...	ORPHA:363958
Choreoacanthocytosis	Blepharospasm, Lateral ventricle dilatation, Decreased amplitude of sensory action potentials, De...	ORPHA:2388
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro...	ORPHA:3384
Dpagt1-Cdg	Optic atrophy, Hearing impairment, Diffuse optic disc pallor, Pulmonary hypoplasia	ORPHA:86309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Inguinal hernia, Pulmonary hypoplasia	ORPHA:83617
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Congenital...	ORPHA:2255
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Pulmonary hypoplasia	OMIM:236700
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Campomelic Dysplasia	Low-set ears, Spinal dysraphism, Conductive hearing impairment, Hearing impairment, Hydrocephalus...	OMIM:114290
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Optic atrophy, Lateral ventricle dilatation, Retinal coloboma, Telecanthus...	ORPHA:261552
Distal Deletion 15Q	Low-set ears, Hearing impairment, Pulmonary hypoplasia	ORPHA:1596
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Retinal coloboma, Telecanthus, Agenesis of corpus callosum, Broad e...	ORPHA:261537
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Short palpebral fissure, Upslanted palpebral fissure, Long lower eyelashes...	OMIM:612474
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Abnormal brainstem morphology	ORPHA:93256
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Tetrasomy 9P	Abnormal earlobe morphology, Umbilical hernia, Glue ear, Hydrocephalus, Pulmonary hypoplasia	ORPHA:3310
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Genitopatellar Syndrome	Downslanted palpebral fissures, Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Restrictive Dermopathy	Low-set ears, Small placenta, Large placenta, Short umbilical cord, Pulmonary hypoplasia	ORPHA:1662
Townes-Brocks Syndrome	Chorioretinal coloboma, Agenesis of corpus callosum, Blepharophimosis, Microphthalmia, Limbal der...	ORPHA:857
Restrictive Dermopathy 1	Low-set ears, Hydropic placenta, Short umbilical cord, Pulmonary hypoplasia	OMIM:275210
Rubinstein-Taybi Syndrome 1	Low-set ears, Hearing impairment, Simple ear, Spina bifida, Spina bifida occulta	OMIM:180849
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Fabry Disease	Optic atrophy, Hyperlipidemia, Abnormal circulating lipid concentration	ORPHA:324
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Abnormal pinna morphology, Spina bifida	OMIM:614437
Thrombocytopenia-Absent Radius Syndrome	Spina bifida	OMIM:274000
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Cardiac-Urogenital Syndrome	Partial anomalous pulmonary venous return, Patent urachus, Scimitar anomaly, Pulmonary hypoplasia	OMIM:618280
Ulbright-Hodes Syndrome	Low-set ears, Pneumothorax, Abnormal pinna morphology, Pulmonary hypoplasia	ORPHA:3404
Mowat-Wilson Syndrome	Ventriculomegaly, Horizontal eyebrow, Retinal coloboma, Telecanthus, Agenesis of corpus callosum,...	ORPHA:2152
Alström Syndrome	Ataxia, Hyperlipidemia, Cone/cone-rod dystrophy, Drusen, Hypertriglyceridemia, Retinal pigment ep...	ORPHA:64
Woodhouse-Sakati Syndrome	Hyperlipidemia, Choreoathetosis	OMIM:241080
Lowe Oculocerebrorenal Syndrome	Ventriculomegaly, Microphthalmia	OMIM:309000
Microphthalmia, Syndromic 1	Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Aganglionic megacolon, Ptosis, Microph...	OMIM:309800
Otopalatodigital Syndrome, Type Ii	Low-set ears, Conductive hearing impairment, Umbilical hernia, Hydrocephalus, Spina bifida, Poste...	OMIM:304120
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Marfan Syndrome	Meningocele	ORPHA:558
Woodhouse-Sakati Syndrome	Hyperlipidemia, Choreoathetosis	ORPHA:3464
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Pallister-Killian Syndrome	Low-set ears, Hearing impairment, Umbilical hernia, Stenosis of the external auditory canal, Ingu...	OMIM:601803
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Pulmonary hypoplasia	ORPHA:93271
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Infracardiac total ...	ORPHA:99125
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Abnormal pinna morphology, Occipital meningocele, Long ear	OMIM:276820
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, 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 Scrib

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Scrib.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deletion of the scavenger receptor Scarb1 in osteoblast progenitors does not affect bone mass.	PloS one (March 2022)	Scrib^{tm1a(NCOM)Mfgc}	35349600

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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
Scrib^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Scrib^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Scrib^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Scrib MGI:2145950

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Morphology Embryo E9.5

Gross Pathology and Tissue Collection

Combined SHIRPA and Dysmorphology

OPT E9.5

Embryo LacZ

Immunophenotyping

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

Histopathology

X-ray

Immunophenotyping

Human diseases caused by Scrib mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data