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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
embryonic growth retardation	Scrib^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Scrib^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
abnormal neural tube closure	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal embryo size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E15.5	0.00
abnormal pericardium morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
pale yolk sac	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal neural tube closure	Scrib^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal embryo size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal retina morphology	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	3.65×10^-06
abnormal craniofacial morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E15.5	0.00
abnormal midbrain morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal placenta size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
increased circulating triglyceride level	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	2.22×10^-05
abnormal craniofacial morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal eye morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal embryo size	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal hindbrain morphology	Scrib^{tm1b(NCOM)Mfgc}	HOM	E12.5	0.00
abnormal gait	Scrib^{tm1b(NCOM)Mfgc}	HET	Early adult	9.56×10^-05

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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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

13 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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Gross Morphology Embryo E9.5

Images

6 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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OPT E9.5

Embryo reconstruction

8 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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Histopathology

Images

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 (1174 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	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Microphthalmia, Ventriculomegaly	ORPHA:324416
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microphthalmia, Agene...	ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218670
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Optic atrophy, Ventriculomegaly	OMIM:617255
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Orbital cyst, Eyelid coloboma, Microphthalmia, Agenesis of c...	OMIM:164180
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ...	OMIM:615558
Hartsfield Syndrome	Encephalocele, Telecanthus, Lobar holoprosencephaly, Microphthalmia, Intrauterine growth retardat...	ORPHA:2117
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Dandy-Walker malformation	OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Downslanted palpebral fissures, V...	ORPHA:2185
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Ethmoidal encepha...	OMIM:607597
Joubert Syndrome 9	Encephalocele, Retinal dystrophy, Ventriculomegaly	OMIM:612285
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Joubert Syndrome 14	Encephalocele, Epicanthus, Morning glory anomaly, Highly arched eyebrow, Hydrocephalus, Meningoce...	OMIM:614424
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Meckel Syndrome 13	Occipital encephalocele, Retinopathy	OMIM:617562
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Hy...	ORPHA:370959
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Distal Deletion 13Q	Encephalocele, Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia affecting the eye	ORPHA:1590
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Absent eyebrow, Absent eyelashes	OMIM:200130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Death in infancy, Ventriculomegaly, Remnants of the hyaloid va...	OMIM:614643
Cocaine Embryofetopathy	Encephalocele, Thoracoabdominal eventration	ORPHA:1911
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Isolated Dandy-Walker Malformation	Encephalocele, Dandy-Walker malformation	ORPHA:217
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:603194
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Hypoplasia of the iris, Small pituitary gland, Nasofrontal ence...	OMIM:614195
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Gastroschisis	Gastroschisis	ORPHA:2368
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fissures, Spina bifid...	OMIM:618736
Frontonasal Dysplasia 1	Epicanthus, Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia, Agenesis of c...	OMIM:136760
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Absent inner eyelashes, Limb...	ORPHA:1791
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Ptosis	OMIM:611560
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Ablepharon, Ventriculomegaly, Spina bifida	OMIM:616038
Parietal Foramina 3	Encephalocele	OMIM:609566
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retar...	OMIM:611134
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia	OMIM:611638
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Partial agenesis of the corpus callosum, Optic atrophy, Micro...	OMIM:616171
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Joubert Syndrome 8	Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor, Ptosis	OMIM:612291
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, Hydrocephalus, Ch...	ORPHA:2318
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:613885
Parietal Foramina 2	Encephalocele	OMIM:609597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Hydrocephalus, Optic atrophy, Retinal dysplasia, Holoprosencep...	OMIM:253800
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Highly arched eyebrow, Hydrocephalus, Re...	ORPHA:220493
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Anencephaly, Narrow palpebral fiss...	OMIM:614175
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum, Retinal dysplasia	OMIM:615771
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia	OMIM:615924
Pseudoprogeria Syndrome	Cranium bifidum occultum, Absent eyebrow, Absent eyelashes, Sparse eyebrow	ORPHA:2985
Oculoauriculofrontonasal Syndrome	Encephalocele, Limbal dermoid, Upper eyelid coloboma	ORPHA:398156
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Abnormality of reproductive sys...	ORPHA:1501
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Epicanthus, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosen...	ORPHA:1908
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Telecanthus, Upslanted palpebral fissure, Microphthalmia, Intrauterine growth reta...	ORPHA:228390
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficulty walking	OMIM:610717
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Hydrocephalus, Hypothalamic hamartoma, Anterior hypopi...	OMIM:241800
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Anophthalmia Plus Syndrome	Blepharophimosis, Eyelid coloboma, Anophthalmia, Spina bifida	ORPHA:1104
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Crypto...	OMIM:248450
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Bartsocas-Papas Syndrome 1	Omphalocele, Absent eyebrow, Ablepharon, Ectropion, Inguinal hernia, Cicatricial lagophthalmos, A...	OMIM:263650
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Schisis Association	Encephalocele, Omphalocele, Anencephaly, Spina bifida	ORPHA:63862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Retinal detachment, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Hydrocephalus, Optic atrophy, Colpocephaly, Death in childhood, Intrauterine gr...	OMIM:616034
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo...	ORPHA:280195
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hydrocephalus, Microphthalmia, Ventriculomegaly, Intrauterin...	ORPHA:858
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Ups...	OMIM:609637
Jacobsen Syndrome	Ptosis, Epicanthus, Telecanthus, Abnormal eyelash morphology, Hydrocephalus, Optic atrophy, Nasol...	OMIM:147791
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Almond-shaped palpebral fissure, Intrauterine growth retardation, Frontal encephalocele, Agenesis...	ORPHA:521308
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Acromelic Frontonasal Dysplasia	Encephalocele, Telecanthus, Anterior pituitary hypoplasia, Meningocele, Choroid plexus cyst, Hypo...	ORPHA:1827
Parietal Foramina 1	Encephalocele	OMIM:168500
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Hydrocephalus, Optic disc col...	OMIM:608091
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cofs Syndrome	Abnormality of retinal pigmentation, Death in infancy, Optic atrophy, Microphthalmia, Intrauterin...	ORPHA:1466
Oculotrichoanal Syndrome	Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos	ORPHA:2717
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Gastroschisis, Spina bifida	ORPHA:2476
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Ventriculomega...	OMIM:605627
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Neonatal death, Microphthalmia, Ventriculomegaly	OMIM:613730
Frontorhiny	Encephalocele, Epicanthus, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Hypopit...	ORPHA:391474
Neu-Laxova Syndrome 1	Ablepharon, Ventriculomegaly, Spina bifida, Absent eyelashes, Choroid plexus cyst, Agenesis of co...	OMIM:256520
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Halperin-Birk Syndrome	Inguinal hernia, Optic atrophy, Colpocephaly, Long eyelashes, Death in childhood, Umbilical herni...	OMIM:618651
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616570
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Acromelic Frontonasal Dysostosis	Encephalocele, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Chor...	OMIM:603671
Holoprosencephaly	Anophthalmia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Dandy-Walker malformation, En...	ORPHA:2162
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Molar tooth si...	OMIM:614815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Knobloch Syndrome 1	Occipital encephalocele, Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Phthisis...	OMIM:267750
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Epicanthus, Hydrocephalus, Abnormal vitreous humor m...	ORPHA:1571
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Ptosis	ORPHA:1473
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, O...	ORPHA:141099
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Inguinal hernia, True hermaphroditism, Abnormal labia morphology, Ambiguous genita...	ORPHA:325345
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Hydrocephalus, Death in childhood, Microphthalmia, Agenesis...	OMIM:613153
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Agenesis of corpus callosum, Optic atrophy	OMIM:274270
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Optic disc hypoplasia, Dysplastic corpus callosum, Colpocephaly, Ag...	OMIM:619955
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Ptosis	OMIM:216360
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Anophthalmia, Absent eyelashes, Hydrocephalus, Myelomeningocele, B...	OMIM:219000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Hydrocephalus, Optic atrophy...	OMIM:619833
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Agenesis of corpus ca...	ORPHA:220497
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Epicanthus, Ventriculomegaly, Retinal dystrophy, Subretinal deposits, Me...	ORPHA:397715
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Highly arched eyebrow, Hydrocephalus, Optic disc colobo...	ORPHA:1454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat...	OMIM:613154
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Retinopathy, ...	OMIM:615636
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Hydrocephalus, Abnormal eyelash morphology	ORPHA:381
Pai Syndrome	Encephalocele, Telecanthus, Downslanted palpebral fissures	ORPHA:1993
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Hydrocephalus, Upslanted palpebral fissure, Holoprosencephaly, Microp...	OMIM:264480
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay	OMIM:300804
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Hydrocephalus, Retinal dystrophy, Facial palsy	OMIM:613155
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Cryptophthalmos	OMIM:617667
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Colpoceph...	OMIM:615219
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Narrow palpebral fissure, Lateral ventricle dilatation, Microphthalmia	OMIM:614219
Richieri-Costa/Guion-Almeida Syndrome	Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis	OMIM:268850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Hydrocephalus, Buphthalmos, Microphthalmia, Agenesis of corpus c...	OMIM:613150
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Ptosis	ORPHA:475
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Capillary hemang...	ORPHA:2849
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor...	ORPHA:1532
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia, Agenesis ...	OMIM:613001
Barber-Say Syndrome	Ablepharon, Telecanthus, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Ectropion	ORPHA:1231
Frontonasal Dysplasia 2	Encephalocele, Telecanthus, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Upslanted palpebr...	OMIM:613451
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv...	OMIM:615287
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Ptosis	OMIM:600118
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Treacher Collins Syndrome 4	Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:618939
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation, Downslanted palpebral fissures, Chorioretinal co...	ORPHA:195
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Acrofacial Dysostosis, Cincinnati Type	Lower eyelid coloboma, Ablepharon, Downslanted palpebral fissures, Upper eyelid coloboma	OMIM:616462
Fryns Microphthalmia Syndrome	Neural tube defect, Macrotia, Abnormality of the ear	OMIM:600776
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum	ORPHA:268249
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Iniencephaly	Encephalocele, Omphalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dy...	ORPHA:63259
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Oculocerebrocutaneous Syndrome	Hydrocephalus, Eyelid coloboma, Dandy-Walker malformation, Ventriculomegaly, Ptosis	ORPHA:1647
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Short stature	ORPHA:166024
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Neonatal death, Microphthalmia, Int...	ORPHA:85284
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Abs...	OMIM:229400
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma, Ptosis	OMIM:300915
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly	OMIM:614120
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentar...	OMIM:608629
Duplication Of The Pituitary Gland	Encephalocele, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Congenital ...	ORPHA:314621
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Constricting Bands, Congenital	Encephalocele, Omphalocele, Eyelid coloboma, Gastroschisis, Bladder exstrophy	OMIM:217100
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Anophthalmia, Long eyelashes, Microphthalmia, Cryptophthalmos	OMIM:615877
Momo Syndrome	Downslanted palpebral fissures, Epicanthus, Eyelid coloboma, Retinal coloboma	OMIM:157980
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Impotence, Xerostomia, Hypohidrosis	ORPHA:43393
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Meckel Syndrome	Encephalocele, Anophthalmia, Abnormal chorioretinal morphology, Hydrocephalus, Anencephaly, Optic...	ORPHA:564
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:488635
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Fraser Syndrome	Encephalocele, Death in infancy, Omphalocele, Anophthalmia, Myelomeningocele, Lacrimal duct aplas...	ORPHA:2052
Ablepharon Macrostomia Syndrome	Omphalocele, Ablepharon, Absent eyebrow, Absent eyelashes, Umbilical hernia, Cryptophthalmos	ORPHA:920
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Griscelli Syndrome Type 1	Hyperlipidemia, Retinopathy, Ataxia	ORPHA:79476
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Orbital cyst	OMIM:251505
Joubert Syndrome 22	Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis	OMIM:615665
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Miscarriage, Pterygium	ORPHA:1865
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci...	ORPHA:139507
Burn-Mckeown Syndrome	Blepharophimosis, Inguinal hernia, Lower eyelid coloboma, Short palpebral fissure	OMIM:608572
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Hydrocephalus, Cranial nerve compr...	ORPHA:2356
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Long eyelashes, Abnormality of peripheral nerve conduction, Microphthalmia, Mot...	ORPHA:48431
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Hydrocephalus, Microphthalmia, Downslanted palpebral fissures, Ventriculomegaly	OMIM:602501
Momo Syndrome	Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb...	ORPHA:2563
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th...	OMIM:609583
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Meningocele, Facial palsy, Pseudopapilledema	ORPHA:3456
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Epicanthus, Anencephaly, Microphthalmia, Agenesis of corpus callosum, Dandy-Walker...	OMIM:619148
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Shallow orbits	OMIM:224400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Hydrocephalus, Optic atrophy, In...	OMIM:619321
Pagod Syndrome	Encephalocele, Death in infancy, Omphalocele, Spina bifida, Meningocele, Optic atrophy	ORPHA:991
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Up...	OMIM:152950
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Gombo Syndrome	Microphthalmia	OMIM:233270
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Overfolded helix, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele	ORPHA:60015
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Microphthalmia, Do...	OMIM:614105
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Occipital encephalocele, Pterygium	OMIM:224410
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Cranium bifidum occultum, Micropht...	ORPHA:306542
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Joubert Syndrome 39	Occipital encephalocele, Retinal dystrophy	OMIM:619562
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Hydrocephalus	ORPHA:974
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fis...	ORPHA:420179
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Omphalocele, Sparse eyebrow, Stillbirth, Microphthalmia, Dandy-Walker malformation	OMIM:616300
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Blepharophimosis	ORPHA:3374
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, H...	ORPHA:899
Teebi Hypertelorism Syndrome 2	Upper eyelid coloboma, Thick eyebrow, Ptosis	OMIM:619736
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Hydrocephalus, Holoprosencephaly, Microphthalmia, Umbilical hernia	ORPHA:2166
Aicardi Syndrome	Retinal detachment, Spina bifida, Hiatus hernia, Chorioretinal lacunae, Partial agenesis of the c...	OMIM:304050
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy	OMIM:617757
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Agenesis of corpus callosum, Optic disc pallor, Highly arched eyebrow	OMIM:300887
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Rere-Related Neurodevelopmental Syndrome	Ptosis, Epicanthus, Ventriculomegaly, Optic atrophy, Chorioretinal coloboma, Blepharophimosis, Mi...	ORPHA:494344
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery	ORPHA:1203
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Chorioretinal coloboma	OMIM:120433
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Knobloch Syndrome 2	Encephalocele, Retinal detachment, Vitreoretinopathy, Vitreous floaters	OMIM:618458
Microcephaly-Microcornea Syndrome, Seemanova Type	Upslanted palpebral fissure, Microphthalmia, Epicanthus	ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Retinal degen...	OMIM:615249
Abetalipoproteinemia	Abetalipoproteinemia, Ataxia, Retinopathy, Retinal degeneration	OMIM:200100
Joubert Syndrome 30	Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Jacobsen Syndrome	Death in infancy, Epicanthus, Ectropion, Inguinal hernia, Ventriculomegaly, Spina bifida, Agenesi...	ORPHA:2308
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Bartsocas-Papas Syndrome	Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl...	ORPHA:1234
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Slc35A2-Cdg	Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Abnormal heart morphology, Atrop...	ORPHA:356961
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Agenesis of corpus ca...	OMIM:614583
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus	ORPHA:141333
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis	ORPHA:2211
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:617127
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Developmental And Epileptic Encephalopathy 31B	Almond-shaped palpebral fissure, Optic atrophy, Colpocephaly, Long palpebral fissure, Agenesis of...	OMIM:620352
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Gait ataxia	ORPHA:363400
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Eyelid coloboma, Abnormal conju...	ORPHA:3339
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Ablepharon, Omphalocele, Hypoplasia of eyelid, Absent eyelashes, ...	OMIM:200110
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Joubert Syndrome 5	Occipital encephalocele, Rod-cone dystrophy, Retinal coloboma, Ptosis	OMIM:610188
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Highly arched eyebrow, Synophrys, Lateral ventricle dilatation, Long pa...	OMIM:617751
Otopalatodigital Syndrome Type 2	Encephalocele, Omphalocele, Myelomeningocele, Hydrocephalus, Downslanted palpebral fissures	ORPHA:90652
Charge Syndrome	Ptosis, Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Aqueductal stenosis, Optic...	ORPHA:138
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Micr...	OMIM:609053
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea...	OMIM:167800
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia	OMIM:619111
Postaxial Acrofacial Dysostosis	Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures	ORPHA:246
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Pulmonary hypoplasia, Low-set ears	OMIM:601163
Cach Syndrome	T2 hypointense thalamus, Optic atrophy, Lateral ventricle dilatation, Optic neuritis, Intrauterin...	ORPHA:135
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Acrofrontofacionasal Dysostosis	Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1784
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Temtamy Syndrome	Microphthalmia, Telecanthus, Chorioretinal coloboma	ORPHA:1777
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydrocephalus, ...	ORPHA:3412
Pierpont Syndrome	Microphthalmia, Telecanthus, Narrow palpebral fissure, Ventriculomegaly	ORPHA:487825
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Temtamy Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Chorioretinal coloboma, Microphthalmia, Ag...	OMIM:218340
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98855
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Optic disc coloboma	OMIM:169550
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Pierpont Syndrome	Telecanthus, Abnormal peripheral nervous system morphology, Narrow palpebral fissure, Blepharophi...	OMIM:602342
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Oculoectodermal Syndrome	Epicanthus, Chorioretinal atrophy, Pineal cyst, Eyelid coloboma, Limbal dermoid, Bladder exstrophy	OMIM:600268
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Limb Body Wall Complex	Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Diastasis recti, Spina bifida, Myelo...	ORPHA:2369
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Chorioretinal coloboma, Long palpebral fissure, Microphthalmia...	OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly	OMIM:616538
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore...	ORPHA:2788
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Lateral ventricle dilatation	OMIM:618266
Gorlin-Chaudhry-Moss Syndrome	Umbilical hernia, Upper eyelid coloboma, Abnormal eyelid morphology	ORPHA:2095
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Telecanthus, Retinitis, Partial agenesis of the corpus callosum, Optic d...	OMIM:615948
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Anencephaly, Intrauterine growth retardation	ORPHA:887
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase	OMIM:604484
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen mor...	ORPHA:2470
Alg2-Cdg	Epicanthus, Downslanted palpebral fissures, Lateral ventricle dilatation	ORPHA:79326
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Pulmonary hypoplasia	OMIM:618174
Chylomicron Retention Disease	Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia	ORPHA:71
Fraser Syndrome 2	Microphthalmia, Cryptophthalmos	OMIM:617666
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Upslanted palpebral fissure, Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculome...	OMIM:613443
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Phthisis ...	OMIM:612109
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98863
Meckel Syndrome, Type 1	Omphalocele, Occipital encephalocele, Ptosis, Dilated fourth ventricle, Ventriculomegaly, Large p...	OMIM:249000
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Inguinal hernia, Umbilical hernia, Microphthalmia, Retinopathy	ORPHA:2505
Dermatomyositis	Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int...	ORPHA:221
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98853
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Synophrys, Narrow palpebral fissure, Colpocephaly, Agenesis of corpus callosum, Ve...	OMIM:620156
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Ventriculomegaly, Facial palsy, Decreased response to growth hormone stimulation test...	OMIM:615873
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Pulmonary hypoplasia	ORPHA:2141
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Narrow palpebral fissure, Microphthalmia, Ptosis	OMIM:615145
Nager Syndrome	Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:245
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Bilateral microphthalmos	ORPHA:77299
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Lens coloboma, Lateral ventricle dilatation, Umbilical hernia, Microphthalmia	OMIM:618914
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Absent eyelashes, Blepharospasm, Eyelid coloboma, Microphthalmi...	ORPHA:861
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Ptosis	OMIM:619972
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ...	OMIM:617296
Treacher Collins Syndrome 3	Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:248390
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ...	OMIM:610688
Weiss-Kruszka Syndrome	Epicanthus, Highly arched eyebrow, Colpocephaly, Downslanted palpebral fissures, Agenesis of corp...	OMIM:618619
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Ptosis	OMIM:618731
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele, Holoprosencephaly	OMIM:619879
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia, Abnormality of r...	ORPHA:290
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
2Q24 Microdeletion Syndrome	Microphthalmia, Downslanted palpebral fissures	ORPHA:1617
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Death in childhood,...	OMIM:612301
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Optic atrophy, Dandy-Walker malformation	ORPHA:3078
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Inguinal hernia, Sparse eyelashes, Absent eyelashes, Bilateral ptosis, Sparse eye...	ORPHA:544488
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Microphthalmia, Sparse medial eyeb...	OMIM:618804
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Epicanthus, Optic nerve hypoplasia, Bilateral ptosis, Partial agenesis of the corpus callosum, Co...	ORPHA:300570
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Dysplastic corpus callosum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:614833
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia, Gait disturbance	ORPHA:819
Global Developmental Delay With Or Without Impaired Intellectual Development	Long palpebral fissure, Lateral ventricle dilatation	OMIM:618330
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Hooded eyelid, Sparse eyelashes, Hydrocephalus, Upslanted palpebra...	OMIM:612863
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ...	ORPHA:370022
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology	ORPHA:85194
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Lower eyelid c...	OMIM:154400
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Lateral ventricle dilatation	OMIM:617668
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia	OMIM:618161
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Bilateral microphthalmos, Retinal coloboma, Hydranencephaly, Short p...	ORPHA:2839
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Macular dystrophy, Eyelid coloboma, Retinal dystrophy, Telecanthus	ORPHA:140952
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Pontocerebellar Hypoplasia Type 10	Growth delay, Abnormal brainstem morphology	ORPHA:411493
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Long palpebral fissure, Microphthalmia, Hypopigmentation of the f...	ORPHA:163649
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Death in infancy	ORPHA:163966
Hydrolethalus	Anophthalmia, Hydrocephalus, Anencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:2189
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination, Lateral ventricle ...	OMIM:221770
Trisomy 13	Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Optic atrophy, A...	ORPHA:3378
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma	ORPHA:231736
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Upslanted palpebral fissure, Colpocephaly, Ventric...	ORPHA:261250
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum	ORPHA:3301
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Partial agenesis of the corpus callosum, Optic atrophy, Keratoconju...	OMIM:234050
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio...	OMIM:256850
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microphthalmia, Ventr...	OMIM:610651
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Melioidosis	Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, Abnormality of the spleen, H...	ORPHA:31202
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Atelosteogenesis, Type I	Encephalocele, Stillbirth, Neonatal death	OMIM:108720
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo...	OMIM:213300
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Monosomy 9Q22.3	Epicanthus, Hydrocephalus, Umbilical hernia, Downslanted palpebral fissures, Microphthalmia, Reti...	ORPHA:77301
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia	OMIM:610125
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Khan-Khan-Katsanis Syndrome	Trichiasis, Highly arched eyebrow, Epiblepharon, Buphthalmos, Pigmentary retinopathy, Colpocephal...	OMIM:618460
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature	OMIM:619185
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Diamond-Blackfan Anemia 11	Eyelid coloboma	OMIM:614900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Intrauterine growth retardation, Hydrocephalus	OMIM:300863
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Lateral ventricle dilatation	OMIM:607596
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Developmental Delay With Variable Neurologic And Brain Abnormalities	Long palpebral fissure, Microphthalmia, Upslanted palpebral fissure, Sparse lateral eyebrow	OMIM:619694
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the...	OMIM:616546
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Epicanthus, Palpebral edema, Optic nerve dysplasia, Optic atrophy, Death in ado...	OMIM:614866
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Warburg Micro Syndrome 3	Blepharophimosis, Microphthalmia, Optic atrophy, Ventriculomegaly	OMIM:614222
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Stromme Syndrome	Optic nerve hypoplasia, Hydrocephalus, Stillbirth, Retinal vascular tortuosity, Microphthalmia, A...	OMIM:243605
Cerebrooculofacioskeletal Syndrome 1	Death in childhood, Blepharophimosis, Microphthalmia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:214150
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Abnorma...	ORPHA:444072
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Intrauterine growth retard...	ORPHA:79243
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum	ORPHA:139471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly	OMIM:618291
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Isolated Klippel-Feil Syndrome	Abnormal cranial nerve morphology, Spina bifida, Hearing impairment	ORPHA:2345
Combined Oxidative Phosphorylation Defect Type 39	Decreased nerve conduction velocity, Intrauterine growth retardation, Lateral ventricle dilatatio...	ORPHA:565624
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Synophrys, Partial agenesis of the corpus callosum, Narrow palpebr...	OMIM:620113
Branchioskeletogenital Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Blepharochalasis, Eyelid coloboma, Bladder exstrop...	ORPHA:1299
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of ...	OMIM:619306
Holoprosencephaly 7	Omphalocele, Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphtha...	OMIM:610828
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Posteriorly rotated ears, Abnormal lung lobation, Large fleshy ears, Pulmonary hypop...	OMIM:263210
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Cerebrooculofacioskeletal Syndrome 4	Abnormal retinal morphology, Bilateral microphthalmos, Death in childhood, Blepharophimosis, Intr...	OMIM:610758
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Inguinal hernia, Sparse eyebrow, Agenesis of corpus callosum, Lateral ventricle dilat...	ORPHA:464738
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration	OMIM:277700
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology	ORPHA:206448
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Intrauterine growth retardation, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:617914
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal cerebellum morphology, Abnormal brainstem morphology	ORPHA:255182
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Alg3-Cdg	Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation, Cardiomyopathy	ORPHA:79321
Mmep Syndrome	Microphthalmia	ORPHA:3434
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Microphthalmia, Agenesis of corpus callosum	ORPHA:93267
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus ...	OMIM:619244
Ritscher-Schinzel Syndrome 3	Death in infancy, Highly arched eyebrow, Chorioretinal coloboma, Microphthalmia, Downslanted palp...	OMIM:619135
Pontocerebellar Hypoplasia, Type 13	Epicanthus, Long eyelashes, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:284417
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Abnormal libido, Pancreatoblastoma, Pituitary cor...	ORPHA:99889
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Upslanted palpebral fissure, Lateral ventricle dilatation	OMIM:615716
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation, Downslanted palpebral fissures, Aganglionic mega...	ORPHA:1438
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hydrocephalus, Anencephaly, Pulmonary hypoplasia	OMIM:313850
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Microphthalmia, Agenesis of corpus callosum	OMIM:309801
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone stimulation test,...	OMIM:617260
Glutamine Deficiency, Congenital	Neonatal death, Subependymal cysts, Lateral ventricle dilatation	OMIM:610015
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Myelomeningocele, Hydrocephalus, Pulmonary hypop...	ORPHA:2437
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Ventriculomegaly	OMIM:308350
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia, Ventriculomegaly	OMIM:100300
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Marden-Walker Syndrome	Ptosis, Epicanthus, Inguinal hernia, Blepharophimosis, Microphthalmia, Agenesis of corpus callosu...	OMIM:248700
Refsum Disease	Retinopathy, Microphthalmia, Abnormality of retinal pigmentation, Ptosis	ORPHA:773
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma...	ORPHA:193
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo...	ORPHA:163961
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Epicanthus, Spina bifida, Anencephaly, Holopros...	ORPHA:3380
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha...	OMIM:606519
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Epicanthus, Sparse eyebrow, Synophrys, Lateral ventricle dilatation, Downslanted palpebral fissures	OMIM:620075
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud...	OMIM:113650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Microphthalmia, Optic atrophy, Ptosis	OMIM:615663
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pigmentar...	OMIM:203800
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Inguinal hernia, Umbilical hernia, Holoprosencephaly, Chorioretinal coloboma, Microph...	OMIM:613884
Intellectual Developmental Disorder, Autosomal Dominant 56	Upslanted palpebral fissure, Lateral ventricle dilatation, Ptosis	OMIM:617854
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Optic nerve hypoplasia, Intrauterine growth retardation, Dilated third ...	OMIM:615574
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Partial agenesis of the c...	ORPHA:50
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Blepharophimosis, Microphthalmia, Agenesis of corpus...	OMIM:601707
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Microphthalmia, Syndromic 8	Blepharophimosis, Microphthalmia, Short palpebral fissure	OMIM:601349
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Microphthalmia, Intrauterin...	ORPHA:2510
Chromosome 8Q21.11 Deletion Syndrome	Lozenge-shaped umbilicus, Epicanthus, Pigmentary retinopathy, Microphthalmia, Downslanted palpebr...	OMIM:614230
Gm1 Gangliosidosis	Inguinal hernia, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the abdominal wall m...	ORPHA:354
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Colpocephaly, Agenesis o...	OMIM:301043
Monosomy 18P	Microphthalmia, Epicanthus, Holoprosencephaly, Ptosis	ORPHA:1598
Galloway-Mowat Syndrome 1	Epicanthus, Ventriculomegaly, Hiatus hernia, Optic atrophy, Hypoplasia of the iris, Microphthalmi...	OMIM:251300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Narrow palpebral fissure, Retinal coloboma, Horizontal eyebrow, Microphthalmia	OMIM:618571
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Pulmonary hypoplasia, Protruding ear	OMIM:617468
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m...	ORPHA:449432
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Upslanted palpebral fissure, Holoprosencephaly, Microphthalmia, Downslanted palpe...	OMIM:612530
Paganini-Miozzo Syndrome	Lateral ventricle dilatation, Downslanted palpebral fissures	OMIM:301025
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia, Hearing impairment	OMIM:616733
Agnathia-Otocephaly Complex	Pulmonary hypoplasia, Holoprosencephaly, Low-set ears, Conductive hearing impairment, Synotia	OMIM:202650
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Upper eyelid coloboma, ...	OMIM:154500
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy	OMIM:612379
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Lower eyelid coloboma, Narrow palpebral fissure, Latera...	OMIM:181270
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:77298
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
2Q31.1 Microdeletion Syndrome	Epicanthus, Inguinal hernia, Ventriculomegaly, Synophrys, Optic disc coloboma, Microphthalmia, Do...	ORPHA:251014
Postaxial Acrofacial Dysostosis	Eyelid coloboma, Downslanted palpebral fissures, Ectropion	OMIM:263750
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Difficulty walking, Abnormal circulating creatine kinase concentration	ORPHA:98907
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Neonatal death, Microphthalmia, Short palpebral fissure, Intrauterine growth...	OMIM:251230
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Intrauterine grow...	ORPHA:1352
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Recurrent respiratory infections, Posteriorly rotated ears, Underfolded helix, Large...	OMIM:618316
Kapur-Toriello Syndrome	Microphthalmia, Dysplastic corpus callosum, Retinal coloboma	ORPHA:2328
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Intrauterine growth retardation, Rod-cone...	ORPHA:572798
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Inguinal hernia, Agenesis of corpus callosum, Microphthalmia, Downslanted palpebral f...	OMIM:616449
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Distal Deletion 10Q	Epicanthus, Upslanted palpebral fissure, Facial diplegia, Lateral ventricle dilatation, Spina bif...	ORPHA:96148
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
X-Linked Intellectual Disability, Wilson Type	Inguinal hernia, Lateral ventricle dilatation	ORPHA:85290
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hydrocephalus, Death in infancy	OMIM:602361
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Inguinal hernia	ORPHA:3191
Bartsocas-Papas Syndrome 2	Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Omphalocele, Pulmonary hypoplasia	ORPHA:3035
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Abnormal thalamus morpholog...	ORPHA:404440
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Microtia, Spina bifida	ORPHA:1327
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Bainbridge-Ropers Syndrome	Death in infancy, Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Late...	OMIM:615485
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI	OMIM:607131
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Ventriculomegaly, Optic nerve hypoplasia, Spina bifida, Facial palsy, Almond-s...	ORPHA:508498
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Bilateral microphth...	ORPHA:2399
Oculofaciocardiodental Syndrome	Retinal detachment, Microphthalmia, Highly arched eyebrow, Ptosis	ORPHA:2712
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia	ORPHA:1135
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Pulmonary hypoplasia, Low-set ears	OMIM:236500
Duane-Radial Ray Syndrome	Epicanthus, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Retinal coloboma, Microph...	OMIM:607323
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ...	OMIM:243910
Sweeney-Cox Syndrome	Upper eyelid coloboma	OMIM:617746
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Holoprosencephaly, Microphth...	OMIM:147250
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Lipemia re...	ORPHA:444490
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab...	ORPHA:990
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Epicanthus, Dysplastic corpus callosum, Upslanted palpebral fissure, Colpocephaly, H...	OMIM:618820
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Eyelid coloboma, Stillbirth, Severe intrauterine growth ret...	OMIM:268300
Poland Syndrome	Encephalocele, Spina bifida occulta, Retinal hamartoma	ORPHA:2911
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Thanatophoric Dysplasia	Hydrocephalus, Pulmonary hypoplasia, Low-set ears, Hearing impairment	ORPHA:2655
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, P...	ORPHA:93111
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Highly arched eyebrow, Colpocephaly, Blepharophimosis, Downslanted palpebral f...	OMIM:620083
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla...	ORPHA:83628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy, Abnormal brainstem morphology	ORPHA:79279
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of the r...	OMIM:253280
Seckel Syndrome 10	Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Fanconi Anemia, Complementation Group J	Microphthalmia, Intrauterine growth retardation	OMIM:609054
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Pulmonary hypoplasia, Low-set ears	OMIM:617895
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Short stature, Hypoplastic left heart, Molar tooth sign on MRI, Occ...	OMIM:277170
Smith-Lemli-Opitz Syndrome	Epicanthus, Aganglionic megacolon, Abnormal eyelash morphology, Optic atrophy, Upslanted palpebra...	ORPHA:818
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Epicanthus, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Intraute...	ORPHA:250989
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Achondrogenesis Type 2	Pulmonary hypoplasia, Hearing impairment	ORPHA:93296
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Horizontal eyebrow, Umbilical ...	ORPHA:369891
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Facial palsy	OMIM:255320
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Waardenburg Syndrome Type 1	Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, He...	ORPHA:894
Fanconi Anemia, Complementation Group S	Epicanthus, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Microphthalmia	OMIM:617883
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Orthostatic hypotension, Lateral ventricle dilatation, Hypothalamic...	ORPHA:2822
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Dubowitz Syndrome	Epicanthus, Telecanthus, Inguinal hernia, Blepharophimosis, Hypoplasia of the iris, Microphthalmi...	OMIM:223370
Aicardi-Goutieres Syndrome 9	Intrauterine growth retardation, Lateral ventricle dilatation, Optic atrophy, Chorioretinal atrophy	OMIM:619487
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:1486
Acrofrontofacionasal Dysostosis 1	Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Microphthalmia, Ptosis	OMIM:201180
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Igg4-Related Ophthalmic Disease	Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormal lung morphology, Lymphoma, Abnormality ...	ORPHA:449563
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Ataxia, Increased circul...	ORPHA:167
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation, Death in childhood	OMIM:610756
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Weaver Syndrome	Epicanthus, Inguinal hernia, Diastasis recti, Lateral ventricle dilatation, Umbilical hernia, Dow...	OMIM:277590
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog...	ORPHA:98755
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Severe sensorineural hearing impairment, Meningocele	ORPHA:2003
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology	ORPHA:467166
Moebius Syndrome	Epicanthus, Microphthalmia, Congenital fibrosis of extraocular muscles, Facial diplegia	OMIM:157900
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Mosaic Trisomy 1	Omphalocele, Congenital bilateral ptosis, Lateral ventricle dilatation, Downslanted palpebral fis...	ORPHA:1692
Fetal Alcohol Syndrome	Ptosis, Epicanthus, Telecanthus, Microphthalmia, Intrauterine growth retardation	ORPHA:1915
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear	ORPHA:2031
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Microphthalmia, Downslanted p...	OMIM:620098
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Microtia, Pulmonary hypoplasia	OMIM:608149
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Blepharophimosis, Hydrocephalus, Upper eyelid coloboma, Br...	OMIM:164210
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma...	ORPHA:68
Tetraamelia Syndrome 1	Hydrocephalus, Peripheral pulmonary vessel aplasia, Gastroschisis, Pulmonary hypoplasia, Low-set ...	OMIM:273395
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Aicardi-Goutières Syndrome	Eyelid coloboma, Ventriculomegaly, Ptosis	ORPHA:51
Cerebellofaciodental Syndrome	Ventricular septal defect, Short stature, Hypoplasia of the pons, Mitral valve prolapse, Cerebell...	OMIM:616202
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Sho...	OMIM:619476
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Diastasis recti, Spina bifida, Hypoplasia of the iris, Chorioretina...	ORPHA:2092
Cousin Syndrome	Blepharophimosis, Hydrocephalus, Narrow palpebral fissure, Hydranencephaly, Microphthalmia, Short...	OMIM:260660
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Martsolf Syndrome 1	Enlarged sylvian cistern, Epicanthus, Inguinal hernia, Microphthalmia, Downslanted palpebral fiss...	OMIM:212720
Hallermann-Streiff Syndrome	Sparse eyelashes, Spina bifida, Sparse eyebrow, Optic disc coloboma, Chorioretinal coloboma, Micr...	OMIM:234100
Monosomy 13Q14	Ptosis, Epicanthus, Holoprosencephaly, Microphthalmia, Retinoblastoma, Intrauterine growth retard...	ORPHA:1587
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures	OMIM:619981
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Small cell lung carcinoma, Cryptorch...	ORPHA:821
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine p...	OMIM:617052
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus	OMIM:617244
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation, Retinal coloboma	OMIM:244300
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h...	ORPHA:2257
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Optic atrophy	ORPHA:314404
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epididym...	OMIM:307200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, Abn...	ORPHA:468631
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Intrauterine growth retardation, Retinal detachment, Remnants of the hyaloid vasc...	ORPHA:2714
Cat Eye Syndrome	Epicanthus, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures	OMIM:115470
Gabriele-De Vries Syndrome	Telecanthus, Sparse eyebrow, Epiblepharon, Lateral ventricle dilatation, Intrauterine growth reta...	OMIM:617557
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Retinal he...	ORPHA:464
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen...	ORPHA:2789
Cerebrocostomandibular Syndrome	Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningocele, Atresia of the extern...	ORPHA:1393
Japanese Encephalitis	Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology	ORPHA:79139
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Unilateral narrow palpebral fissure, Optic atrophy	OMIM:618727
Mosaic Trisomy 9	Ventriculomegaly, Spina bifida, Upslanted palpebral fissure, Microphthalmia, Dandy-Walker malform...	ORPHA:99776
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Death in adolescence, Lateral ventricle dilatation, Intrauterine growth retarda...	OMIM:619229
Microphthalmia, Lenz Type	Microphthalmia, Optic disc coloboma, Ankyloblepharon, Chorioretinal coloboma	ORPHA:568
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Holoprosencephaly	OMIM:184705
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Cryptococcosis	Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Peritonitis, Neoplasm, Cirrhosis...	ORPHA:1546
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Congenital Disorder Of Glycosylation, Type Iig	Upslanted palpebral fissure, Intrauterine growth retardation, Lateral ventricle dilatation, Downs...	OMIM:611209
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Ab...	ORPHA:2556
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Death in infancy, Hydrocephalus, Optic atrophy, Blepharophimosis, Mi...	ORPHA:1106
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Short stature, Abnormal heart morphology, Growth delay, Molar tooth...	ORPHA:2754
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Ventriculomegaly, Optic atrophy, Upslanted palpebral fissure, Blepharophimosis, Micro...	OMIM:616975
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Faundes-Banka Syndrome	Epicanthus, Hypoplasia of the lower eyelids, Long palpebral fissure, Intrauterine growth retardat...	OMIM:619376
3P25.3 Microdeletion Syndrome	Epicanthus, Abnormal thalamus morphology, Blepharophimosis, Microphthalmia, Downslanted palpebral...	ORPHA:435638
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Lacrimal duct atresia	OMIM:300952
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Galloway-Mowat Syndrome 3	Epicanthus, Hiatus hernia, Microphthalmia, Downslanted palpebral fissures, Ventriculomegaly, Intr...	OMIM:617729
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Noonan Syndrome 14	Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Lateral ventricle dilatation, Downslanted pal...	OMIM:619745
Triploidy	Low-set, posteriorly rotated ears, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Cockayne Syndrome B	Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ...	OMIM:133540
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Low-set ears	OMIM:191830
Tetrasomy 5P	Recurrent respiratory infections, Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of ...	ORPHA:3309
Trichothiodystrophy	Epicanthus, Ectropion, Ventriculomegaly, Partial agenesis of the corpus callosum, Bilateral micro...	ORPHA:33364
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Dandy-Walker malformat...	OMIM:156610
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Increased circulating gonadotropin level, Blepharophimosis, M...	OMIM:110100
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
22Q11.2 Deletion Syndrome	Ptosis, Telecanthus, Epicanthus, Aganglionic megacolon, Inguinal hernia, Spina bifida, Abnormal e...	ORPHA:567
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven...	ORPHA:1855
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr...	OMIM:221900
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Microphthalmia With Limb Anomalies	Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Downslanted palpebra...	OMIM:206920
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Severe intrauterine growth...	OMIM:241410
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Epicanthus	OMIM:618652
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Sparse eyebrow, Narrow palpebral fissure, Lateral ve...	OMIM:619869
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Retinal vascular malfor...	ORPHA:42775
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm...	OMIM:200995
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Adrenocortical carcinoma, Cryptorchidism, Exocrin...	ORPHA:116
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Telecanthus, Gastroschisis, Abnormal cranial nerve morphology	ORPHA:989
Aceruloplasminemia	Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration	ORPHA:48818
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypotha...	OMIM:206900
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Telecanthus, Partial agenesis of the corpus callosum, Upslanted palpebr...	ORPHA:434179
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Scalp-Ear-Nipple Syndrome	Eyelid coloboma, Palpebral edema, Telecanthus	ORPHA:2036
Fountain Syndrome	Sensorineural hearing impairment, Spina bifida occulta, Spina bifida	ORPHA:3219
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar...	ORPHA:370997
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Warburg Micro Syndrome 2	Microphthalmia, Optic atrophy	OMIM:614225
Severe Congenital Nemaline Myopathy	Facial diplegia, Pulmonary hypoplasia, Facial palsy, Low-set ears	ORPHA:171430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Posteriorly rotated ears, Large fleshy ears, Pulmonary hypoplasia, Low-set ears, Pleural effusion	OMIM:616897
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Intrauterine growth retardation, Ectropion	OMIM:616395
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
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
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchiolitis obliteran...	OMIM:300755
Cog5-Cdg	Intrauterine growth retardation, Neurogenic bladder, Lateral ventricle dilatation	ORPHA:263487
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Microphthalmia, Dacryoc...	OMIM:620185
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Microphthalmia, Downslanted palpebral fissure...	OMIM:302960
Acro-Renal-Ocular Syndrome	Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal colo...	ORPHA:959
Ohdo Syndrome, X-Linked	Epicanthus, Inguinal hernia, Hiatus hernia, Sparse eyebrow, Blepharophimosis, Microphthalmia, Dow...	OMIM:300895
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Umbilical hernia, Meningocele, Spina bifida occulta	ORPHA:2311
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Atelectasis, H...	OMIM:269860
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Treacher Collins Syndrome 2	Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:613717
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Epicanthus	OMIM:618494
Secondary Short Bowel Syndrome	Aganglionic megacolon, Gastroschisis	ORPHA:95427
Autosomal Recessive Multiple Pterygium Syndrome	Inguinal hernia, Hearing abnormality, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmo...	ORPHA:2990
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Annular pancreas, Os...	OMIM:268400
Fanconi Anemia	Ptosis, Epicanthus, Ventriculomegaly, Aganglionic megacolon, Spina bifida, Abnormal eyelid morpho...	ORPHA:84
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Intrauterine growth retardation, Blepharophimosis, Ptosis	ORPHA:2728
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Microsporidiosis	Pneumonia, Bronchitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gla...	ORPHA:2552
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Highly arched eyebrow, Lagophth...	OMIM:619539
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Delayed peripheral myelination, Synophrys, Thin eyebrow, Microphthalmia, Short palpe...	ORPHA:364577
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Distal Triplication 15Q	Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Microtia, Pulmonary hypoplasia, Abno...	ORPHA:314588
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Atelosteogenesis, Type Ii	Pulmonary hypoplasia	OMIM:256050
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia, Increased ...	ORPHA:77293
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Shawl scrotum, Hepatic steat...	OMIM:616263
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia, Low-set ears	OMIM:312150
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Anophthalmia, Diastasis recti, Hiatus hernia, Myelomeningocele, Hyd...	OMIM:305600
Mosaic Variegated Aneuploidy Syndrome	Epicanthus, Ventriculomegaly, Holoprosencephaly, Microphthalmia, Downslanted palpebral fissures, ...	ORPHA:1052
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin...	OMIM:308300
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Low-set ears	ORPHA:85166
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Hydrocephalus, Meningocele, Low...	OMIM:130720
Fryns Syndrome	Omphalocele, Ventriculomegaly, Aganglionic megacolon, Microphthalmia, Agenesis of corpus callosum...	ORPHA:2059
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Holoprosencephaly	ORPHA:250999
Basal Cell Nevus Syndrome 1	Microphthalmia, Hydrocephalus, Orbital cyst, Spina bifida	OMIM:109400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology, Short stature	ORPHA:2720
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI	OMIM:617563
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys...	ORPHA:8
Stevenson-Carey Syndrome	Microphthalmia, Downslanted palpebral fissures	OMIM:611961
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Umbili...	OMIM:300166
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Supernumerary nipple, Facial hemangioma	OMIM:605039
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Telecanthus, Sparse eyelashes, Microphthalmia, Downslanted palpebral fissures, Short ...	OMIM:257850
Hydrolethalus Syndrome 1	Omphalocele, Anencephaly, Stillbirth, Severe hydrocephalus, Microphthalmia, Agenesis of corpus ca...	OMIM:236680
Fetal Akinesia Deformation Sequence	Posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:994
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Pulmonary hypoplasia	ORPHA:1190
Mend Syndrome	Telecanthus, Abnormal auditory evoked potentials, Hydrocephalus, Upslanted palpebral fissure, Mic...	ORPHA:401973
Diaphanospondylodysostosis	Inguinal hernia, Pulmonary hypoplasia, Low-set ears	OMIM:608022
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Microphthalmia, Syndromic 9	Inguinal hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agen...	OMIM:601186
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Downslanted palpebral fissures	ORPHA:457279
Smith-Lemli-Opitz Syndrome	Death in infancy, Epicanthus, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpu...	OMIM:270400
Amish Lethal Microcephaly	Optic atrophy, Spina bifida	ORPHA:99742
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Congenital Disorder Of Glycosylation, Type Iim	Epicanthus, Lateral ventricle dilatation, Intrauterine growth retardation, Rod-cone dystrophy, Th...	OMIM:300896
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis, Pulmonary hypoplasia, Ambiguous genit...	OMIM:263520
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia, Low-set ears	OMIM:253290
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Holoprosencephaly, Hypothalamic hamartoma,...	OMIM:146510
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Neurogenic b...	ORPHA:90324
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation	OMIM:192350
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Partial agenesis of the corpus...	OMIM:210710
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy	OMIM:619418
Lethal Congenital Contracture Syndrome 10	Omphalocele, Pulmonary hypoplasia, Low-set ears	OMIM:617022
Campomelia, Cumming Type	Pancreatic cysts, Hepatomegaly, Myelodysplasia, Abnormality of the pancreas	ORPHA:1318
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Fanconi Anemia, Complementation Group L	Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Upslanted palpebral fissure	OMIM:614083
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema	OMIM:127000
Trisomy 8P	Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Annular pan...	ORPHA:264450
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Dysmetria, Gait ataxia, Pigmentary retinopathy, Dysdiadochokinesis, Hyperch...	OMIM:606721
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Blepharophimosis, Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Chorioretin...	OMIM:157170
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Micropenis, Leukemia	OMIM:227646
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Almond-shap...	ORPHA:177907
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
8Q21.11 Microdeletion Syndrome	Epicanthus, Blepharophimosis, Microphthalmia, Downslanted palpebral fissures, Ptosis	ORPHA:284160
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration	ORPHA:98908
Trisomy 20P	Low-set, posteriorly rotated ears, Spina bifida, Protruding ear, Abnormal antihelix morphology, A...	ORPHA:261318
Feingold Syndrome	Abnormality of the spleen, Annular pancreas	ORPHA:1305
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Epicanthus, Facial palsy, Sparse eyebrow, Optic disc coloboma, Lacrimal duct apla...	OMIM:620186
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Downslanted palpebral fissures	OMIM:614526
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Microphthalmia, Downslanted palpebral fissures, Sparse eyelashes	ORPHA:35173
Renal Agenesis, Bilateral	Pulmonary hypoplasia, Low-set ears, Sirenomelia	ORPHA:1848
Necrotizing Enterocolitis	Gastroschisis	ORPHA:391673
Heart And Brain Malformation Syndrome	Microphthalmia, Dandy-Walker malformation	OMIM:616920
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Disproportionate short-limb short s...	OMIM:619479
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Ventriculomegaly, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Microphth...	OMIM:616734
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:2612
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Epiblepharon, Lateral ventricle dilatation, Short umbilical cord, Thick eyebrow	OMIM:618367
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Epicanthus, Hydrocephalus, Optic disc coloboma, Optic atrophy, Synophrys, Upsl...	OMIM:607872
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hepatocellular carcinoma, Pancreatitis	OMIM:232220
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Teebi Hypertelorism Syndrome 1	Omphalocele, Pulmonary hypoplasia	OMIM:145420
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Bilateral ptosis, Synophrys, Colpocephaly, Downslanted palpebral fissures	ORPHA:477993
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion	OMIM:278730
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iris, Peripap...	OMIM:175780
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Optic disc coloboma, Pulmonary hypoplasia, Hearing im...	ORPHA:2260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip...	ORPHA:191
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
8Q24.3 Microdeletion Syndrome	Branchial cyst, Epicanthus, Inguinal hernia, Ectopic posterior pituitary, Optic nerve hypoplasia,...	ORPHA:508488
Thanatophoric Dysplasia, Type I	Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Alagille Syndrome 1	Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia	OMIM:118450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Optic nerve hypoplasia, Sparse eyebrow, Dysplastic corpus callosum, Optic atrophy, La...	ORPHA:500150
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Ependymoma, Recurrent pneumon...	ORPHA:798
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:614377
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Hypermyelinated retinal nerve fibers, Shallow orbits	OMIM:601812
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Inguinal hernia, Chorioretinal dysplasia, Buphthalmos, Upslanted palpebral fiss...	ORPHA:534
Fontaine Progeroid Syndrome	Death in infancy, Hypoplasia of the abdominal wall musculature, Hydrocephalus, Synophrys, Umbilic...	OMIM:612289
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen...	OMIM:610199
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Shallow orbits	OMIM:617306
Bohring-Opitz Syndrome	Recurrent respiratory infections, Medulloblastoma, Annular pancreas, Cholelithiasis, Nephroblastoma	ORPHA:97297
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Pulmonary hypoplasia	OMIM:314390
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Narrow palpebral fissure, Stillbirth, Blepharophimosis, Micro...	OMIM:229850
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Intrauterine growth retardation, Bilateral microphthalmos, Papilledema	ORPHA:93325
Igg4-Related Kidney Disease	Retroperitoneal fibrosis, Abnormal lung morphology, Abnormal mesentery morphology, Abnormality of...	ORPHA:449395
Monosomy 9P	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Agenesis of corpus cal...	ORPHA:261112
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Posteriorly rotated ears, Spina bifida	OMIM:613776
Scimitar Syndrome	Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re...	ORPHA:185
Familial Multiple Lipomatosis	Chorioretinitis, Hyperlipidemia	ORPHA:199276
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia, Low-set ears	OMIM:151210
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Pulmonary hypoplasia	OMIM:231680
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Achondroplasia	Conductive hearing impairment, Hydrocephalus, Recurrent otitis media, Pulmonary hypoplasia	OMIM:100800
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Keratoconjunctivitis sicca, Death in infancy	OMIM:601675
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Waardenburg Syndrome, Type 1	Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida	OMIM:193500
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Cutis Laxa, Autosomal Recessive, Type Ic	Inguinal hernia, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Emphys...	OMIM:613177
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu...	ORPHA:699
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Downslanted palpebral fissures	ORPHA:251038
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Pericardial And Diaphragmatic Defect	Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Posteriorly rotated ears, Cupped ear, Large fleshy ears, Pulmonary hypoplasia, Low-set ears, Over...	OMIM:614080
Charge Syndrome	Omphalocele, Anophthalmia, Facial palsy, Decreased response to growth hormone stimulation test, G...	OMIM:214800
17Q12 Microdeletion Syndrome	Cryptorchidism, Shawl scrotum, Pancreatic aplasia	ORPHA:261265
Lymphedema-Distichiasis Syndrome	Ptosis, Conjunctivitis, Microphthalmia, Distichiasis, Ectropion	OMIM:153400
Raine Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Pro...	OMIM:259775
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology	ORPHA:88619
Keppen-Lubinsky Syndrome	Shallow orbits, Lateral ventricle dilatation, Abnormally large globe	OMIM:614098
Kabuki Syndrome 1	Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Hydrocephalus, Prominent eyelashes, Late...	OMIM:147920
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts,...	ORPHA:730
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Pleuri...	ORPHA:900
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Keratoconjunctivitis sicca	ORPHA:1806
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Posteriorly rotated ears, Sensorineural hearing impairment, Pulmonary hypoplas...	OMIM:214100
Genitopatellar Syndrome	Pulmonary hypoplasia, Low-set ears, Hearing impairment	ORPHA:85201
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas...	ORPHA:731
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstr...	ORPHA:353277
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the spleen, Hypothyroidism, Annu...	ORPHA:1606
Distal Deletion 12Q	Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Micropenis, Annular pancreas	ORPHA:96149
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Exocrine pancreatic insufficiency	OMIM:557000
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia	OMIM:259770
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Inguinal hernia, Pulmonary hypoplasia, Low-set ears, Co...	OMIM:265000
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Pulmonary hypoplasia	OMIM:616866
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Fanconi Anemia, Complementation Group F	Microphthalmia, Intrauterine growth retardation, Decreased response to growth hormone stimulation...	OMIM:603467
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Hypertriglyceridemia, Retinal degeneration	ORPHA:79474
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia, Low-set ears	OMIM:618975
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Sensorineural hearing impairment, Prune belly, Pulmonary hypoplasia	OMIM:619351
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Teebi-Shaltout Syndrome	Microphthalmia, Telecanthus, Highly arched eyebrow, Ptosis	OMIM:272950
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Optic atrophy, Bronchiectasis	OMIM:619708
Gaucher Disease, Perinatal Lethal	Microtia, Pulmonary hypoplasia, Low-set ears	OMIM:608013
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Upslanted palpebral fissure, Death in infancy, Lateral ventricle dilatation	OMIM:300868
Oculodentodigital Dysplasia	Epicanthus, Neurogenic bladder, Blepharophimosis, Microphthalmia, Short palpebral fissure	OMIM:164200
Pallister-Hall Syndrome	Inguinal hernia, Hypopituitarism, Adrenocorticotropic hormone deficiency, Gonadotropin deficiency...	ORPHA:672
Mosaic Trisomy 16	Abnormal ear morphology, Large placenta, Abnormal lung morphology, Pulmonary hypoplasia, Hearing ...	ORPHA:1708
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypospadias, Asplenia, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Abno...	OMIM:265380
Rodrigues Blindness	Microphthalmia	OMIM:268320
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Neu-Laxova Syndrome	Macrotia, Pulmonary hypoplasia, Spina bifida	ORPHA:2671
6Q Terminal Deletion Syndrome	Colpocephaly, Short palpebral fissure, Highly arched eyebrow	ORPHA:75857
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Abnormal midbrain morphology, Delayed puberty	ORPHA:293987
Gangliocytoma	Abnormal cerebellum morphology, Abnormal brainstem morphology	ORPHA:251937
Branchiooculofacial Syndrome	Ptosis, Telecanthus, Anophthalmia, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebr...	OMIM:113620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Repeated pneumothoraces, Atelectasis, Hydroce...	ORPHA:536467
3Q29 Microdeletion Syndrome	Microphthalmia, Downslanted palpebral fissures	ORPHA:65286
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas	OMIM:618162
Wilson Disease	Face of the giant panda sign	OMIM:277900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Inguinal hernia, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Microp...	OMIM:609945
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Tarp Syndrome	Low-set, posteriorly rotated ears, Optic atrophy, Prominent antihelix, Abnormal antihelix morphol...	ORPHA:2886
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Fanconi Anemia, Complementation Group C	Microphthalmia, Intrauterine growth retardation, Epicanthus	OMIM:227645
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Optic disc hypoplasia, Ataxia, Optic atrophy, Pigmentary retinopathy, Trunc...	ORPHA:3455
Nail-Patella Syndrome	Sensorineural hearing impairment, Spina bifida	OMIM:161200
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Branchial fistula, Epicanthus, Inguinal hernia, Ventriculomegaly, ...	OMIM:613406
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Microphthalmia, Holoprosencephaly	ORPHA:3186
Lathosterolosis	Meningocele, Hearing impairment	ORPHA:46059
Esophageal Atresia	Omphalocele, Recurrent respiratory infections, Bronchitis, Abnormality of the ear, Pulmonary hypo...	ORPHA:1199
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Posteriorly rotated ears, Spina bifida, Cupped ear, Unilateral facial palsy, Low-set ears, Thicke...	OMIM:619480
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Degcags Syndrome	Ptosis, Abnormal eyebrow morphology, Hiatus hernia, Abnormal eyelash morphology, Synophrys, Long ...	OMIM:619488
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure, Intrauterine growt...	OMIM:608670
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Mowat-Wilson Syndrome	Ventriculomegaly, Aganglionic megacolon, Agenesis of corpus callosum, Chorioretinal coloboma, Mic...	OMIM:235730
Congenital Myopathy 22B, Severe Fetal	Pleural effusion, Pulmonary hypoplasia, Low-set ears	OMIM:620369
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Truncal ataxia	OMIM:264090
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Sparse eyelashes, Unilateral microphthalmos	OMIM:618874
Achondrogenesis, Type Ia	Pulmonary hypoplasia, Low-set ears	OMIM:200600
Alg9-Cdg	Low-set, posteriorly rotated ears, Omphalocele, Abnormal lung lobation, Large fleshy ears, Pulmon...	ORPHA:79328
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Orbital cyst, Microphthalmia, Anterior hypopituitarism, Ventricu...	OMIM:607932
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Pulmonary hypoplasia	OMIM:271520
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Pulmonary hypoplasia	ORPHA:96179
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Congenital Tracheomalacia	Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Recurrent upp...	ORPHA:95430
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Synophrys, Lacrimal duct atresia, Inguinal hernia	OMIM:603457
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus	ORPHA:1236
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Meningocele	ORPHA:1010
Yunis-Varon Syndrome	Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Bilateral microphthalmos, Upslanted palpebral fi...	ORPHA:3472
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Abnormal autonomic nervous system ph...	OMIM:601559
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Pulmonary hypoplasia, Hearing impairment	OMIM:308050
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Inguinal hernia, Anophthalmia	ORPHA:2250
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Abnormal brainstem morphology, Birth length less than 3rd percentile, ...	ORPHA:464311
Alkaptonuria	Prostatitis	ORPHA:56
Alobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de...	ORPHA:220386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Optic nerve hypoplasia, Optic disc coloboma, ...	ORPHA:536471
Phocomelia, Schinzel Type	Meningocele, Protruding ear	ORPHA:2879
Hallermann-Streiff Syndrome	Sparse eyebrow, Microphthalmia, Telecanthus, Sparse eyelashes	ORPHA:2108
Atelosteogenesis Type Ii	Pulmonary hypoplasia, Low-set ears	ORPHA:56304
Meier-Gorlin Syndrome 7	Sensorineural hearing impairment, Microtia, Pulmonary hypoplasia, Low-set ears, Hearing impairment	OMIM:617063
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Microtia, third degree, Posteriorly rotated ears, Abnormality o...	ORPHA:2753
Myhre Syndrome	Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Thick eyebrow, Intrauterine growth re...	OMIM:139210
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Hiatus hernia	ORPHA:2538
Fibular Hemimelia	Spina bifida	ORPHA:93323
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia,...	OMIM:620025
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Intrauterine growth retardation, Blepharophimosis	OMIM:620005
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Meacham Syndrome	Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary venous connection, P...	OMIM:608978
Ogden Syndrome	Inguinal hernia, Pulmonary artery stenosis, Protruding ear, Pulmonary hypoplasia, Low-set ears, R...	OMIM:300855
Renpenning Syndrome 1	Epicanthus, Telecanthus, Upslanted palpebral fissure, Death in childhood, Microphthalmia, Sparse ...	OMIM:309500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Upslanted pal...	OMIM:619534
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microtia, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears	OMIM:617925
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:236100
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia, Short umbilical cord, Low-set ears	OMIM:616503
Greenberg Dysplasia	Large placenta, Abnormal lung lobation, Pulmonary hypoplasia, Low-set ears	OMIM:215140
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Spontaneous conjunctival filtering bleb, Downslanted palpebral fissures	OMIM:601552
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Hydrocephalus, Optic atrophy, Protruding ear, Recurrent otitis media, Macrotia, Hea...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Hydrocephalus, Optic atrophy, Protruding ear, Recurrent otitis media, Macrotia, Hea...	ORPHA:363958
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Telecanthus, Epicanthus, Aganglionic megacolon, Highly arched eyebrow, Optic atrophy, Lateral ven...	ORPHA:261552
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Low-set ears	ORPHA:50945
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Low-set ears, Conductive hearing impairment, Hear...	OMIM:114290
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pulmonary artery stenosis, Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasi...	ORPHA:2255
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Blepharospa...	ORPHA:2388
Acrorenal-Mandibular Syndrome	Posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears	OMIM:200980
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Posteriorly rotated ears, Diastasis recti, Large placenta, Pulmonary artery stenosis...	ORPHA:96334
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Hydrocephalus, Short umbilical cord, Low-set ears, Small placenta, Pulm...	OMIM:208150
Penile Agenesis	Bilateral lung agenesis, Cloacal abnormality, Posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:49
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Aganglionic megacolon, Lateral ventricle dilatation, Retinal coloboma, Microphthalmi...	ORPHA:261537
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Abnormal brainstem morphology	ORPHA:93256
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Long lower eyelashes, ...	OMIM:612474
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Osteogenesis Imperfecta	Mixed hearing impairment, Inguinal hernia, Hydrocephalus, Noncommunicating hydrocephalus, Progres...	ORPHA:666
Genitopatellar Syndrome	Agenesis of corpus callosum, Colpocephaly, Downslanted palpebral fissures	OMIM:606170
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary hypoplasia, Pulm...	ORPHA:980
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Pulmonary hypoplasia, Low-set ears	ORPHA:83617
Townes-Brocks Syndrome	Blepharophimosis, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Agenesis of corpus call...	ORPHA:857
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Pulmonary hypoplasia	OMIM:236700
Rubinstein-Taybi Syndrome 1	Spina bifida, Hearing impairment, Low-set ears, Spina bifida occulta, Simple ear	OMIM:180849
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma...	ORPHA:3384
Dpagt1-Cdg	Diffuse optic disc pallor, Optic atrophy, Pulmonary hypoplasia, Hearing impairment	ORPHA:86309
Distal Deletion 15Q	Pulmonary hypoplasia, Low-set ears, Hearing impairment	ORPHA:1596
Thrombocytopenia-Absent Radius Syndrome	Spina bifida	OMIM:274000
Tetrasomy 9P	Glue ear, Hydrocephalus, Abnormal earlobe morphology, Pulmonary hypoplasia, Umbilical hernia	ORPHA:3310
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy...	ORPHA:64
Mowat-Wilson Syndrome	Telecanthus, Ventriculomegaly, Aganglionic megacolon, Retinal coloboma, Horizontal eyebrow, Micro...	ORPHA:2152
Restrictive Dermopathy	Large placenta, Pulmonary hypoplasia, Low-set ears, Short umbilical cord, Small placenta	ORPHA:1662
Restrictive Dermopathy 1	Pulmonary hypoplasia, Hydropic placenta, Short umbilical cord, Low-set ears	OMIM:275210
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Ventriculomegaly	OMIM:309000
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia	OMIM:241080
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia,...	OMIM:309800
Otopalatodigital Syndrome, Type Ii	Posteriorly rotated ears, Spina bifida, Hydrocephalus, Low-set ears, Conductive hearing impairmen...	OMIM:304120
Marfan Syndrome	Meningocele	ORPHA:558
Ulbright-Hodes Syndrome	Pneumothorax, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears	ORPHA:3404
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia	ORPHA:3464
Cardiac-Urogenital Syndrome	Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Patent urachus	OMIM:618280
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Abnormal pinna morphology, Long ear, Low-set ears	OMIM:276820
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Pulmonary hypoplasia	ORPHA:93271
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears, Umbil...	OMIM:601803
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona...	ORPHA:99125

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

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

X-ray

Immunophenotyping

X-ray

Combined SHIRPA and Dysmorphology

Gross Morphology Embryo E9.5

Embryo LacZ

X-ray

X-ray

OPT E9.5

Immunophenotyping

Gross Morphology Embryo E14.5-E15.5

Histopathology

Human diseases caused by Scrib mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data