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

Download data as: TSV XLS

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lacZ Expression

No Adult expression data was found for this gene.

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

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

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

Anatomy	Background staining in controls (WT)

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

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

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Eye Morphology

1 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Human diseases caused by Scrib mutations

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

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

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

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

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

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Tumor Predisposition Syndrome 1	Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu...	OMIM:614327
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia, Retinal dysplasia, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum,...	ORPHA:1528
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Gastroschisis	Gastroschisis, Abdominal wall defect	OMIM:230750
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele, Agenesis of corpus callosum	OMIM:218670
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbital cyst, Orbital encephalocele, Age...	OMIM:164180
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Lissencephaly 8	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Microphthalmia	OMIM:617255
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Encephalocele, Abnormal optic disc morphology	ORPHA:65
Lissencephaly 5	Optic atrophy, Occipital encephalocele, Hydrocephalus	OMIM:615191
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Hartsfield Syndrome	Microphthalmia, Telecanthus, Encephalocele, Lobar holoprosencephaly, Downslanted palpebral fissur...	ORPHA:2117
Joubert Syndrome 16	Dandy-Walker malformation, Encephalocele, Retinal dystrophy	OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Microphthalmia, Retinal dysplasia	OMIM:614830
Congenital Hydrocephalus	Optic atrophy, Hydrocephalus, Downslanted palpebral fissures, Colpocephaly, Ventriculomegaly, Mac...	ORPHA:2185
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Telecanthus, Ethmoidal encephalocele, Optic nerve hypoplasia, Eyelid co...	OMIM:607597
Joubert Syndrome 9	Ventriculomegaly, Encephalocele, Retinal dystrophy	OMIM:612285
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Joubert Syndrome 14	Optic atrophy, Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformati...	OMIM:614424
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Meckel Syndrome 13	Retinopathy, Occipital encephalocele	OMIM:617562
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Microphthalmia, Retinal detachment, Optic nerve hypoplasi...	ORPHA:370959
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Distal Deletion 13Q	Optic atrophy, Anencephaly, Encephalocele, Aplasia/Hypoplasia affecting the eye, Holoprosencephaly	ORPHA:1590
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Encephalocele, Absent eyebrow	OMIM:200130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Death in childhood, Retinal dysplasia, Encephalocele, Retinal detachment, Optic n...	OMIM:614643
Cocaine Embryofetopathy	Thoracoabdominal eventration, Encephalocele	ORPHA:1911
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Isolated Dandy-Walker Malformation	Dandy-Walker malformation, Encephalocele	ORPHA:217
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Hypoplasia of the iris, Ventricu...	OMIM:614195
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hypocholesterolemia, ...	OMIM:615558
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Omphalocele, ...	OMIM:603194
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Emphysema, Pulmonary fibrosis	OMIM:618913
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Frontofacionasal Dysplasia	Microphthalmia, Upper eyelid coloboma, Encephalocele, Telecanthus, Absent inner eyelashes, Ptosis...	ORPHA:1791
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Microphthalmia	OMIM:251700
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas...	ORPHA:2302
Frontonasal Dysplasia 1	Microphthalmia, Anterior basal encephalocele, Ptosis, Agenesis of corpus callosum, Epicanthus, Cr...	OMIM:136760
Joubert Syndrome 7	Ptosis, Encephalocele, Retinal dystrophy	OMIM:611560
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation, Ptosis, Downslanted palp...	OMIM:618736
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Neu-Laxova Syndrome 2	Ablepharon, Ventriculomegaly, Intrauterine growth retardation, Spina bifida	OMIM:616038
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Parietal Foramina 3	Encephalocele	OMIM:609566
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation...	OMIM:611134
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt...	OMIM:611040
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chorioretinal coloboma	OMIM:611638
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Retinopathy, Partial agenesis of the corpus callosum, Intrauterine...	OMIM:616171
Joubert Syndrome 8	Occipital encephalocele, Ptosis, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Highly arched eyebrow, Pt...	ORPHA:2318
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia	OMIM:613885
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Omphalocele, Cryptophthalmos, Eyelid col...	OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Microphthalmia, Encephalocele, Retinal dysplasia, Hydrocephalus, Retinal detachmen...	OMIM:253800
Parietal Foramina 2	Encephalocele	OMIM:609597
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum, Retinal dysplasia	OMIM:615771
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Dilated fourth ventricle, Ptosis...	OMIM:614175
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Highly arched eyebrow, Re...	ORPHA:220493
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Upper eyelid coloboma, Telecanthus, Conjunctival hyperemia, Absent lacrimal punct...	OMIM:167730
Pseudoprogeria Syndrome	Cranium bifidum occultum, Absent eyelashes, Sparse eyebrow, Absent eyebrow	ORPHA:2985
Adrenocortical Carcinoma	Elevated serum 11-deoxycortisol, Abnormality of reproductive system physiology, Adrenocorticotrop...	ORPHA:1501
Oculoauriculofrontonasal Syndrome	Limbal dermoid, Upper eyelid coloboma, Encephalocele	ORPHA:398156
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Epicanthus, Intrauteri...	ORPHA:1908
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Telecanthus, Encephalocele, Agenesis of corpus callosum, Intrauterine growth reta...	ORPHA:228390
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Anophthalmia Plus Syndrome	Anophthalmia, Blepharophimosis, Eyelid coloboma, Spina bifida	ORPHA:1104
Pallister-Hall-Like Syndrome	Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma, Death i...	OMIM:241800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chori...	OMIM:251270
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia	OMIM:615924
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Optic nerve hypoplasia, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Schisis Association	Omphalocele, Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Bartsocas-Papas Syndrome 1	Ectropion, Axillary pterygium, Popliteal pterygium, Microphthalmia, Inguinal hernia, Pterygium, A...	OMIM:263650
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Abnormal macular morphology, Increased LDL cholesterol concentration, Decre...	OMIM:607616
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Myelomeningocele, Partial agenes...	ORPHA:101030
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Occipital encephalocele, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal d...	OMIM:236670
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morpho...	ORPHA:280195
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Abnormality of retinal pigmentation, Intrauterine growth retardati...	ORPHA:858
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Jacobsen Syndrome	Optic atrophy, Microphthalmia, Telecanthus, Hydrocephalus, Abnormal eyelash morphology, Ptosis, H...	OMIM:147791
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Microphthalmia, Ankyloblepharon	OMIM:123570
Joubert Syndrome 2	Microphthalmia, Retinal dystrophy, Encephalocele, Hydrocephalus, Enlarged fossa interpeduncularis...	OMIM:608091
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Synophrys,...	OMIM:609637
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Death in childhood, Hydrocephalus, Death in infancy, Colpocephaly, Intrauterine gr...	OMIM:616034
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Telecanthus, Anterior pituitary hypoplasia, Choroid plexus cyst, Ptos...	ORPHA:1827
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Cofs Syndrome	Optic atrophy, Microphthalmia, Death in infancy, Abnormality of retinal pigmentation, Intrauterin...	ORPHA:1466
Parietal Foramina 1	Encephalocele	OMIM:168500
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Oculotrichoanal Syndrome	Microphthalmia, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Nasolacrimal duct obstruction	ORPHA:2717
Orbital Margin, Hypoplasia Of	Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia	OMIM:165600
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Gastroschisis, Anencephaly, Spina bifida	ORPHA:2476
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Death in infancy, Neonatal death, Ventriculomegaly, Optic disc pallor	OMIM:613730
Microphthalmia, Isolated 8	Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Retinal deta...	OMIM:615113
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, Dandy-Walker malformation, Sp...	OMIM:605627
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Microphthalmia/Coloboma 10	Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit	OMIM:616428
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Stillbirth, Small placenta, Hydranencephaly, Pterygium, Dan...	OMIM:256520
Knobloch Syndrome 1	Occipital encephalocele, Spina bifida occulta, Telecanthus, Retinal detachment, Chorioretinal atr...	OMIM:267750
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina...	ORPHA:891
Frontorhiny	Microphthalmia, Encephalocele, Ptosis, Basal encephalocele, Epicanthus, Hypopituitarism, Cranium ...	ORPHA:391474
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Knobloch Syndrome	Occipital encephalocele, Abnormal vitreous humor morphology, Retinal detachment, Macular degenera...	ORPHA:1571
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid	ORPHA:209956
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de...	OMIM:620444
Halperin-Birk Syndrome	Optic atrophy, Semilobar holoprosencephaly, Death in childhood, Inguinal hernia, Long eyelashes, ...	OMIM:618651
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Ventriculomegaly, Microphthalmia, Agenesis of corpus callosum	OMIM:616570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus	OMIM:615181
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Joubert Syndrome 18	Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis, Intrauterine gro...	OMIM:614815
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Ptosis, Chorioretinal coloboma	ORPHA:1473
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Congenital Herpes Simplex Virus Infection	Hydranencephaly	ORPHA:293
Holoprosencephaly	Microphthalmia, Highly arched eyebrow, Retinopathy, Optic atrophy, Encephalocele, Hydrocephalus, ...	ORPHA:2162
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Dysdiadochokinesis, Increased L...	OMIM:277460
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Orbital cyst, Abnormal nasolacrimal system ...	ORPHA:141099
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Intrauterine growth retardation, Frontal encephalocele, Agenesis of corpus callosum, Almond-shape...	ORPHA:521308
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Death in childhood, Retinal detachment, Dandy-Walker malformation, Hydrocephalus,...	OMIM:613153
46,Xy Ovotesticular Difference Of Sex Development	Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita...	ORPHA:325345
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Coach Syndrome 1	Ptosis, Occipital encephalocele, Encephalocele, Optic disc pallor	OMIM:216360
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Optic disc hypoplasia, Peripheral axonal neuropathy, Sparse lateral e...	OMIM:619955
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy	OMIM:267760
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Retinal dystrophy, Meningocele, Dandy-Walker malformation, Dilated third...	ORPHA:397715
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Holoprosencephaly, Omphalocele	OMIM:601357
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci...	OMIM:305390
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Hydrocephalus, Highly arched eyebrow, Ptosis, Chorioret...	ORPHA:1454
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Medial flaring of the eyebrow, Retinal detachment, Hydrocephalus, Long eyelashes, ...	OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia, Facial palsy, Retinal dystrophy	OMIM:613155
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Encephalocele, Hydrocephalus, Highly arched eyebrow, Ptosis, Agenesis of c...	ORPHA:220497
Fraser Syndrome 1	Bilateral microphthalmos, Upper eyelid coloboma, Encephalocele, Anophthalmia, Hydrocephalus, Abse...	OMIM:219000
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Megalopapilla, Encephalocele, Anophthalmia, Retinopathy, ...	OMIM:615636
Griscelli Syndrome	Hydrocephalus, Abnormal eyebrow morphology, Encephalocele, Abnormal eyelash morphology	ORPHA:381
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Hydrocephalus, Communicating hydrocephalus, Downslanted palpebral fissures, Colpoc...	OMIM:615219
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Foveal Hypoplasia 2	Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation	OMIM:609218
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Dilated third ventric...	OMIM:613154
Pai Syndrome	Downslanted palpebral fissures, Telecanthus, Encephalocele	ORPHA:1993
Fraser Syndrome 3	Hydrocephalus, Cryptophthalmos, Stillbirth	OMIM:617667
Adams-Oliver Syndrome 2	Optic atrophy, Microphthalmia, Hydrocephalus, Lateral ventricle dilatation, Narrow palpebral fissure	OMIM:614219
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele, Hydrocephalus, Omphalocele, Holoprosencephaly, Agenesis of corpus ...	OMIM:264480
Gómez-López-Hernández Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum m...	ORPHA:1532
Richieri-Costa/Guion-Almeida Syndrome	Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Spina bifida occulta	OMIM:268850
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Death in infancy, Agenesis of corpus c...	OMIM:613150
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Capillary hemangioma, Nephroblas...	ORPHA:2849
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Joubert Syndrome	Aganglionic megacolon, Encephalocele, Hydrocephalus, Highly arched eyebrow, Ptosis	ORPHA:475
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the iris, Agenesis of cor...	OMIM:613001
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas...	ORPHA:1183
Frontonasal Dysplasia 2	Short palpebral fissure, Microphthalmia, Telecanthus, Encephalocele, Sparse eyelashes, Sparse eye...	OMIM:613451
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Barber-Say Syndrome	Ectropion, Sparse or absent eyelashes, Telecanthus, Ablepharon, Aplasia/Hypoplasia of the eyebrow	ORPHA:1231
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Meckel Syndrome, Type 3	Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele	OMIM:607361
Microphthalmia/Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Warburg Micro Syndrome 1	Optic atrophy, Microphthalmia, Enlarged sylvian cistern, Ptosis, Agenesis of corpus callosum	OMIM:600118
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Frontonasal Dysplasia 3	Sparse eyelashes, Microphthalmia, Upper eyelid coloboma, Absent eyebrow	OMIM:613456
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Cat-Eye Syndrome	Intrauterine growth retardation, Downslanted palpebral fissures, Microphthalmia, Chorioretinal co...	ORPHA:195
Lambert-Eaton Myasthenic Syndrome	Hypohidrosis, Small cell lung carcinoma, Impotence, Xerostomia	ORPHA:43393
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Microphthalmia, Telecanthus, Absent inner eyelashes, Ptosis, Eyelid ...	OMIM:229400
Treacher Collins Syndrome 4	Lower eyelid coloboma, Downslanted palpebral fissures	OMIM:618939
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum, Eyelid coloboma	ORPHA:268249
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Joubert Syndrome 3	Retinal dystrophy, Highly arched eyebrow, Ptosis, Enlarged fossa interpeduncularis, Lateral ventr...	OMIM:608629
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Overfolded helix, Pulmonary hypoplasia, Low-set, posteriorly rotated ears	ORPHA:2631
Oculocerebrocutaneous Syndrome	Hydrocephalus, Dandy-Walker malformation, Ptosis, Eyelid coloboma, Ventriculomegaly	ORPHA:1647
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Molar tooth sign on MRI	ORPHA:166024
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Neonatal death, Int...	ORPHA:85284
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Retinal dysplasia, Hydrocephalus, Da...	OMIM:615287
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Duplication Of The Pituitary Gland	Congenital stationary night blindness, Encephalocele, Abnormal pituitary gland morphology, Abnorm...	ORPHA:314621
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:600348
Microphthalmia, Syndromic 13	Ptosis, Microphthalmia, Chorioretinal coloboma	OMIM:300915
Hydrolethalus Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Anencephaly	OMIM:614120
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Constricting Bands, Congenital	Encephalocele, Omphalocele, Eyelid coloboma, Bladder exstrophy, Gastroschisis	OMIM:217100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long eyelashes, Cryptophthalmos, Epicanthus	OMIM:615877
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Momo Syndrome	Downslanted palpebral fissures, Eyelid coloboma, Epicanthus, Retinal coloboma	OMIM:157980
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Meckel Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Anencephaly, Encephalocele, Ano...	ORPHA:564
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Intrauterine growth retardation, Abnormal lateral ventricle morphology	ORPHA:488635
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
46,Xx Sex Reversal 4	Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ...	OMIM:617480
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Upper eyelid coloboma, Inguinal hernia, Pterygium, Hydrocephalus, Dandy-Walk...	OMIM:616462
Ablepharon Macrostomia Syndrome	Absent eyelashes, Ablepharon, Absent eyebrow, Cryptophthalmos, Omphalocele, Umbilical hernia	ORPHA:920
Joubert Syndrome 22	Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis	OMIM:615665
Microphthalmia/Coloboma 4	Orbital cyst, Microphthalmia	OMIM:251505
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Death in childhood, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum,...	OMIM:619517
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Miscarriage, Encephalocele, Pterygium	ORPHA:1865
Acromelic Frontonasal Dysostosis	Encephalocele, Telecanthus, Optic nerve hypoplasia, Choroid plexus cyst, Remnants of the hyaloid ...	OMIM:603671
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys...	ORPHA:71505
Burn-Mckeown Syndrome	Short palpebral fissure, Lower eyelid coloboma, Blepharophimosis, Inguinal hernia	OMIM:608572
Momo Syndrome	Bilateral microphthalmos, Downslanted palpebral fissures, Chorioretinal coloboma, Eyelid coloboma...	ORPHA:2563
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Ventriculomegaly	OMIM:602501
Arachnoid Cyst	Encephalocele, Hydrocephalus, Facial palsy, Cranial nerve compression, Ptosis, Enlarged fossa int...	ORPHA:2356
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Lateral ventricle dilatation	OMIM:618890
Gastroschisis	Intrauterine growth retardation, Gastroschisis	ORPHA:2368
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele, Shallow orbits	OMIM:224400
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Agenesis of corpus callosu...	OMIM:619148
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El...	OMIM:609583
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasia, Intrauterine growth reta...	OMIM:619321
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Pagod Syndrome	Optic atrophy, Encephalocele, Meningocele, Omphalocele, Spina bifida, Death in infancy	ORPHA:991
Gombo Syndrome	Microphthalmia	OMIM:233270
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Neonatal death, Pterygium	OMIM:224410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Retinal detachment, Downslanted palpebral fissures, Chorioretinal ...	OMIM:152950
Griscelli Syndrome Type 1	Retinopathy, Hyperlipidemia, Ataxia	ORPHA:79476
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Malformed lacrimal duct, Omphaloce...	ORPHA:2052
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele	ORPHA:60015
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Sparse eyelashes, Ptosis, Sparse eyebrow, Epicanthus, Eyelid coloboma, Agenesis o...	ORPHA:306542
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Joubert Syndrome 39	Occipital encephalocele, Retinal dystrophy	OMIM:619562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Microphthalmia, Encephalocele, Dandy-Walker malformation, Omphalocele, Sparse eyebrow	OMIM:616300
Adams-Oliver Syndrome	Hydrocephalus, Microphthalmia, Encephalocele	ORPHA:974
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Hydrocep...	ORPHA:899
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele, Omphalocele	ORPHA:1335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Malan Overgrowth Syndrome	Optic disc hypoplasia, Downslanted palpebral fissures, Lateral ventricle dilatation, Ventriculome...	ORPHA:420179
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Downslanted palpebral fissures, Epicanthus, Lateral ventricle dilatation, Retinal...	OMIM:614105
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Blepharophimosis, Encephalocele	ORPHA:3374
Microphthalmia/Coloboma 12	Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob...	OMIM:120200
Teebi Hypertelorism Syndrome 2	Ptosis, Thick eyebrow, Upper eyelid coloboma	OMIM:619736
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Low-set ears, Pulmonary hypoplasia, Omphalocele	OMIM:601163
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Hydrocephalus, Omphalocele, Holoprosencephaly, Umbilical hernia	ORPHA:2166
Wildervanck Syndrome	Pseudopapilledema, Facial palsy, Congenital sensorineural hearing impairment, Meningocele	ORPHA:3456
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Agenesis of corpus callosum, Microphthalmia, Optic disc pallor	OMIM:300887
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Dandy-Walker malformation, Choroid plexus cyst...	OMIM:304050
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Broad eyebrow, Ptosis, Chorioretinal coloboma, Epicanthus, Intraut...	ORPHA:494344
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Chorioretinal coloboma	OMIM:120433
Joubert Syndrome 32	Abnormal cerebellum morphology, Molar tooth sign on MRI, Hypertrophic cardiomyopathy	OMIM:617757
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Upslanted palpebral fissure, Epicanthus	ORPHA:2528
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Hydrocephalus, Agenesis of corpus callosum, Retinal degen...	OMIM:615249
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Vitreous floaters, Encephalocele	OMIM:618458
Bartsocas-Papas Syndrome	Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypoplasia of the eyebr...	ORPHA:1234
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Jacobsen Syndrome	Ectropion, Inguinal hernia, Spina bifida, Death in infancy, Ptosis, Downslanted palpebral fissure...	ORPHA:2308
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly	ORPHA:2211
Slc35A2-Cdg	Dandy-Walker malformation, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Abno...	ORPHA:356961
Baraitser-Winter Syndrome 2	Microphthalmia, Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Agenesis of c...	OMIM:614583
Charge Syndrome	Optic atrophy, Aqueductal stenosis, Microphthalmia, Anterior hypopituitarism, Anophthalmia, Abnor...	ORPHA:138
Biemond Syndrome Type 2	Hydrocephalus, Microphthalmia	ORPHA:141333
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Craniosynostosis 6	Spina bifida occulta, Dandy-Walker malformation, Ptosis, Agenesis of corpus callosum, Lateral ven...	OMIM:616602
Pancreatitis, Hereditary	Pancreatic pseudocyst, Pancreatitis, Pleural effusion, Exocrine pancreatic insufficiency, Pancrea...	OMIM:167800
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:617127
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Almond-shaped palpebral fissure, Long palpebral fissure, Colpocephaly, Agenesis of...	OMIM:620352
Joubert Syndrome 5	Ptosis, Occipital encephalocele, Rod-cone dystrophy, Retinal coloboma	OMIM:610188
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Aganglionic megacolon, Telecanthus, Eyelid coloboma, Epicanthus, Agenesi...	ORPHA:3339
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Omphalocele	ORPHA:2141
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyelashes, Absent eyebrow, Ablepharon, Cryptophthalmos, Omphalocele, Hypop...	OMIM:200110
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Synophrys, Dilated fourth ventricle, Long palpebral fissure, Lateral ventr...	OMIM:617751
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Microphthalmia, Intrauterine growth retardation, Ventriculomegaly, Ab...	ORPHA:48431
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele, Omphalocele, Downslanted palpebral fissures	ORPHA:90652
Postaxial Acrofacial Dysostosis	Downslanted palpebral fissures, Ectropion of lower eyelids, Eyelid coloboma	ORPHA:246
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Pulmonary hypoplasia	OMIM:618174
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Gait ataxia	ORPHA:363400
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Acrofrontofacionasal Dysostosis	Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Joubert Syndrome 30	Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on...	OMIM:617622
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Co...	OMIM:609053
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:619111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Telecanthus	ORPHA:1777
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Cach Syndrome	Optic atrophy, T2 hypointense thalamus, Optic neuritis, Lateral ventricle dilatation, Intrauterin...	ORPHA:135
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Pierpont Syndrome	Ventriculomegaly, Narrow palpebral fissure, Microphthalmia, Telecanthus	ORPHA:487825
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Temtamy Syndrome	Microphthalmia, Highly arched eyebrow, Downslanted palpebral fissures, Chorioretinal coloboma, Ag...	OMIM:218340
Vacterl With Hydrocephalus	Aqueductal stenosis, Microphthalmia, Inguinal hernia, Anophthalmia, Hydrocephalus, Abnormal optic...	ORPHA:3412
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Optic disc coloboma	OMIM:169550
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m...	ORPHA:2470
Pierpont Syndrome	Microphthalmia, Telecanthus, Unilateral narrow palpebral fissure, Narrow palpebral fissure, Abnor...	OMIM:602342
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar...	OMIM:193220
Baraitser-Winter Syndrome 1	Microphthalmia, Highly arched eyebrow, Long palpebral fissure, Ptosis, Chorioretinal coloboma, Ep...	OMIM:243310
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Oculoectodermal Syndrome	Bladder exstrophy, Chorioretinal atrophy, Eyelid coloboma, Epicanthus, Limbal dermoid, Pineal cyst	OMIM:600268
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Buphthalmos, Macul...	OMIM:212550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Limb Body Wall Complex	Short umbilical cord, Ventral hernia, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph...	ORPHA:2369
Meckel Syndrome, Type 6	Hydrocephalus, Occipital encephalocele, Anencephaly	OMIM:612284
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Microphthalmia, Buphthalmos, Retinal dystrophy, Hydrocephalus, Ventriculomegaly	OMIM:616538
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva...	ORPHA:98855
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Ex...	ORPHA:2788
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:267700
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Retinal detachment, Chorioretinal atrophy, Ret...	OMIM:612109
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Upper eyelid coloboma, Umbilical hernia	ORPHA:2095
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Death in infancy	OMIM:618266
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Telecanthus, Dandy-Walker malformation, Retinal coloboma, Holoprosenceph...	OMIM:615948
Vacterl/Vater Association	Intrauterine growth retardation, Occipital encephalocele, Anencephaly, Omphalocele	ORPHA:887
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Abetalipoproteinemia	Retinopathy, Retinal degeneration, Ataxia, Abetalipoproteinemia	OMIM:200100
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Synophrys, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Narrow pal...	OMIM:620156
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Decreased response to growth hormone stimulation test, Short palpebral fissure,...	OMIM:615873
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Alg2-Cdg	Downslanted palpebral fissures, Epicanthus, Lateral ventricle dilatation	ORPHA:79326
Fraser Syndrome 2	Cryptophthalmos, Microphthalmia	OMIM:617666
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature, Growth delay	OMIM:300804
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Inguinal hernia, Retinopathy, Epicanthus, Umbilical hernia	ORPHA:2505
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Upslanted palpebral fissure, Lateral ventricle dilata...	OMIM:613443
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Nager Syndrome	Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow...	ORPHA:245
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Microphthalmia/Coloboma 9	Macular coloboma, Microphthalmia, Retinal detachment, Ptosis, Narrow palpebral fissure	OMIM:615145
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Hydrocephalus, Dandy-Walker...	OMIM:249000
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia	OMIM:603471
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ...	OMIM:617296
Joubert Syndrome 6	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di...	OMIM:610688
Treacher-Collins Syndrome	Microphthalmia, Encephalocele, Absent eyelashes, Blepharospasm, Downslanted palpebral fissures, E...	ORPHA:861
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Inguinal hernia, Umbilical hernia, Lens coloboma, Lateral ventricle dilatation	OMIM:618914
Treacher Collins Syndrome 3	Lower eyelid coloboma, Downslanted palpebral fissures	OMIM:248390
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231183
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:619553
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance	OMIM:604484
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Lateral ventricle dilatation	ORPHA:77299
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva...	ORPHA:98853
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Ptosis, Lateral ventricle dilatation	OMIM:619972
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Curry-Jones Syndrome	Ventriculomegaly, Microphthalmia, Agenesis of corpus callosum, Optic disc coloboma	ORPHA:1553
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Ptosis, Colpocephaly	OMIM:618731
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Weiss-Kruszka Syndrome	Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Colpocephaly, Epicanthus, Agenesis...	OMIM:618619
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Holoprosencephaly	OMIM:619879
Congenital Primary Aphakia	Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of...	ORPHA:83461
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Congenital Rubella Syndrome	Intrauterine growth retardation, Microphthalmia, Abnormality of retinal pigmentation, Aplasia/Hyp...	ORPHA:290
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina...	OMIM:238600
Sandestig-Stefanova Syndrome	Microphthalmia, Highly arched eyebrow, Sparse medial eyebrow, Laterally extended eyebrow, Epicant...	OMIM:618804
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Bilateral ptosis, Inguinal hernia, Absent eyelashes, Dilated third ve...	ORPHA:544488
2Q24 Microdeletion Syndrome	Downslanted palpebral fissures, Microphthalmia	ORPHA:1617
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei...	OMIM:205400
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Death in childhood, Optic nerve compression, Hydrocephalus, Death in infancy, Late...	OMIM:612301
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle dilatation	ORPHA:3078
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Bilateral ptosis, Optic nerve hypoplasia, Abnormal thalamus morpho...	ORPHA:300570
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:620603
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Telecanthus, Hydranencephaly, Retinal detachment, Hydrocephalus, Hig...	OMIM:620371
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Melioidosis	Lung abscess, Liver abscess, Prostatitis, Acute infectious pneumonia, Splenic abscess, Parotitis,...	ORPHA:31202
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Global Developmental Delay With Or Without Impaired Intellectual Development	Long palpebral fissure, Lateral ventricle dilatation	OMIM:618330
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A...	ORPHA:370022
Chromosome 6Q24-Q25 Deletion Syndrome	Short palpebral fissure, Medial flaring of the eyebrow, Hooded eyelid, Hydrocephalus, Sparse eyel...	OMIM:612863
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Telecanthus, Macular dystrophy, Eyelid coloboma, Retinal dystrophy	ORPHA:140952
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance	ORPHA:819
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Downslanted palpebral fissures, Sparse...	OMIM:154400
Usher Syndrome Type 1	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231169
Pelvis-Shoulder Dysplasia	Short palpebral fissure, Bilateral microphthalmos, Hydranencephaly, Hydrocephalus, Spina bifida, ...	ORPHA:2839
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle	OMIM:618161
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Low-set ears, Omphalocele, Pulmonary hypoplasia, Large fleshy ears, Poste...	OMIM:263210
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Death in infancy	OMIM:617668
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum	OMIM:614833
Norrie Disease	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Hypoplasia of the iris, Bup...	OMIM:310600
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy	ORPHA:231736
Pontocerebellar Hypoplasia Type 10	Growth delay, Abnormal brainstem morphology	ORPHA:411493
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Retinal detachment, Long palpebral fissure, Epicanthus, Hypopigmentation of the f...	ORPHA:163649
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Death in infancy	ORPHA:163966
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Microphthalmia, Syndromic 12	Microphthalmia, Neonatal death, Anophthalmia	OMIM:615524
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Joubert Syndrome 1	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun...	OMIM:213300
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Abnormal eyelash morphology, Abnormal retinal vascul...	ORPHA:3378
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Ventriculomegaly, Pigmentary ...	OMIM:610651
Bor Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ...	ORPHA:107
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Peripheral demyelination, A...	OMIM:221770
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microphthalmia, Sparse eyelashes, Epicanthus, Partial agenesis of the corpus callo...	OMIM:234050
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Optic nerve hypoplasia, Colpocephaly, Ventriculomegaly, Upslanted palpebra...	ORPHA:261250
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Atelosteogenesis, Type I	Stillbirth, Neonatal death, Encephalocele	OMIM:108720
Thoracoabdominal Syndrome	Ventral hernia, Anencephaly, Hydrocephalus, Omphalocele, Pulmonary hypoplasia	OMIM:313850
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Monosomy 9Q22.3	Microphthalmia, Hydrocephalus, Retinopathy, Downslanted palpebral fissures, Epicanthus, Umbilical...	ORPHA:77301
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Spina bifida occulta, Hydrocephalus, Myel...	ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Uplifted earlobe, Posteriorly rotated ears, Spina bifida	OMIM:620439
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary	OMIM:610125
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Microphthalmia, Intrauterine growth retardation	OMIM:300863
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Agnathia-Otocephaly Complex	Synotia, Low-set ears, Conductive hearing impairment, Holoprosencephaly, Pulmonary hypoplasia	OMIM:202650
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Long palpebral fissure, Microphthalmia, Upslanted palpebral fissure	OMIM:619694
Khan-Khan-Katsanis Syndrome	Trichiasis, Buphthalmos, Highly arched eyebrow, Epiblepharon, Colpocephaly, Intrauterine growth r...	OMIM:618460
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Dermatomyositis	Abnormal pulmonary interstitial morphology, Breast carcinoma, Gastrointestinal stroma tumor, Lymp...	ORPHA:221
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Protruding ear, Pulmonary hypoplasia	OMIM:617468
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature	OMIM:619185
Diamond-Blackfan Anemia 11	Eyelid coloboma	OMIM:614900
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Spinal hemangi...	OMIM:193300
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Pulmonary hypoplasia	OMIM:616733
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Cerebellar-Facial-Dental Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal midbrain morphology, Hypoplasia of the pons, Seve...	ORPHA:444072
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Palpebral edema, Death in adolescence, Death in infancy, Co...	OMIM:614866
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Occipital meni...	OMIM:616546
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Lateral ventricle dilatation	OMIM:607596
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Warburg Micro Syndrome 3	Optic atrophy, Ventriculomegaly, Microphthalmia, Blepharophimosis	OMIM:614222
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Stromme Syndrome	Stillbirth, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Agenesis of corpus callosum, R...	OMIM:243605
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Facial palsy, Unilateral microphthalmos	OMIM:615085
Holoprosencephaly 7	Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ...	OMIM:610828
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Death in childhood, Agenesis of corpus callosum, Ventriculomegaly, Blepharophimosis	OMIM:214150
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor...	ORPHA:64744
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Muscle-Eye-Brain Disease	Hydrocephalus, Optic atrophy, Holoprosencephaly, Meningocele	ORPHA:588
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Ventriculomegaly, Spina bifida occulta, Lateral ventricle dilatation	OMIM:618291
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Chorioretinal coloboma, Agenesis of corpus callosum	ORPHA:139471
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Amenorrhea, Neuroendocrine neoplasm, Small cell lung carcinoma, Pancreat...	ORPHA:99889
Pyruvate Dehydrogenase E1-Alpha Deficiency	Agenesis of corpus callosum, Lateral ventricle dilatation, Intrauterine growth retardation, Ventr...	ORPHA:79243
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormal cranial nerve morphology, Spina bifida	ORPHA:2345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Low-set ears, Omphalocele, Underfolded helix, Pulmonary hypoplasia, Pos...	OMIM:618316
Alg3-Cdg	Hearing impairment, Neural tube defect, Abnormal pinna morphology, Pulmonary hypoplasia	ORPHA:79321
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Decreased nerve conduction velocity, Optic disc pallor, Lateral ...	ORPHA:565624
Branchioskeletogenital Syndrome	Bladder exstrophy, Telecanthus, Highly arched eyebrow, Synophrys, Umbilical hernia, Downslanted p...	ORPHA:1299
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Death in childhood, Abnormal retinal morphology, Intrauterine growth re...	OMIM:610758
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Dilated fourth ven...	OMIM:619306
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Broad eyebrow, Synophrys, Colpocephaly, Agenesis of corpus callosu...	OMIM:620113
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Inguinal hernia, Dilated third ventricle, Ptosis, Downslanted palpebral fissures,...	ORPHA:464738
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum	OMIM:617914
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Agenesis of corpus callosum, Omphalocele	ORPHA:93267
Pontocerebellar Hypoplasia, Type 13	Dandy-Walker malformation, Epicanthus, Lateral ventricle dilatation, Long eyelashes	OMIM:618606
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal cerebellum morphology, Abnormal brainstem morphology	ORPHA:255182
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Pulmonary hypoplasia, Omphalocele	ORPHA:3035
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Ritscher-Schinzel Syndrome 3	Microphthalmia, Highly arched eyebrow, Death in infancy, Downslanted palpebral fissures, Choriore...	OMIM:619135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short palpebral fissure, Decreased response to growth hormone stimulation test, Telecanthus, Down...	OMIM:617260
Pendred Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque...	ORPHA:705
Mmep Syndrome	Microphthalmia	ORPHA:3434
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Downslanted palpebral fissures, Aganglionic megacolon, Microphth...	ORPHA:1438
Femoral-Facial Syndrome	Encephalocele, Inguinal hernia, Spina bifida, Epicanthus, Agenesis of corpus callosum, Ventriculo...	OMIM:134780
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation	ORPHA:284417
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Dilated third ventricle, Agenesis of corpus callosum, Later...	OMIM:619244
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Upslanted palpebral fissure, Lateral ventricle dilatation	OMIM:615716
Glutamine Deficiency, Congenital	Subependymal cysts, Neonatal death, Lateral ventricle dilatation	OMIM:610015
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Pigmentary retinopathy	OMIM:309801
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Cohen Syndrome	Optic atrophy, Microphthalmia, Abnormal eyelid morphology, Abnormal eyelash morphology, Long eyel...	ORPHA:193
Developmental And Epileptic Encephalopathy 1	Ventriculomegaly, Microphthalmia	OMIM:308350
Papillorenal Syndrome	Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Orbital cyst, Re...	OMIM:120330
Adams-Oliver Syndrome 1	Ventriculomegaly, Microphthalmia, Encephalocele	OMIM:100300
Refsum Disease	Retinopathy, Ptosis, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:773
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Marden-Walker Syndrome	Microphthalmia, Inguinal hernia, Dandy-Walker malformation, Ptosis, Agenesis of corpus callosum, ...	OMIM:248700
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Omphalocele, Abnormality of retinal pigmentation, Holo...	ORPHA:3380
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Pulmonary hypoplasia, Hydranencephaly	OMIM:236500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum...	OMIM:603553
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Increased retin...	OMIM:606519
Thanatophoric Dysplasia	Hearing impairment, Hydrocephalus, Pulmonary hypoplasia, Low-set ears	ORPHA:2655
Werner Syndrome	Hypertriglyceridemia, Retinal degeneration, Elevated hemoglobin A1c	OMIM:277700
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Lateral ventricle dilatation	OMIM:620075
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Inguinal hernia, Retinoblastoma, Holoprosencephaly, Chorioretinal coloboma, Epica...	OMIM:613884
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Sparse lateral eyebrow, Abnormality of retinal...	ORPHA:50
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Dilated third ventricle, Dilated fourth ventricle, Intrauterine growth re...	OMIM:615574
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Microphthalmia, Syndromic 8	Short palpebral fissure, Microphthalmia, Blepharophimosis	OMIM:601349
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity, Microphthalmia, Ptosis	OMIM:615663
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Micro Syndrome	Optic atrophy, Microphthalmia, Retinal coloboma, Abnormality of retinal pigmentation, Intrauterin...	ORPHA:2510
Polymicrogyria Due To Tubb2B Mutation	Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:300573
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Curry-Jones Syndrome	Microphthalmia, Lipomyelomeningocele, Occipital meningocele, Agenesis of corpus callosum, Ventric...	OMIM:601707
Achondrogenesis Type 2	Hearing impairment, Pulmonary hypoplasia	ORPHA:93296
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
Intellectual Developmental Disorder, Autosomal Dominant 56	Ptosis, Upslanted palpebral fissure, Lateral ventricle dilatation	OMIM:617854
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Pulmonary hypoplasia, Omphalocele	OMIM:617895
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Retinal coloboma, Horizontal eyebrow, Epicanthus, Narrow palpebral fissure	OMIM:618571
Monosomy 18P	Ptosis, Microphthalmia, Holoprosencephaly, Epicanthus	ORPHA:1598
Chromosome 8Q21.11 Deletion Syndrome	Lozenge-shaped umbilicus, Short palpebral fissure, Microphthalmia, Ptosis, Downslanted palpebral ...	OMIM:614230
Scalp-Ear-Nipple Syndrome	Palpebral edema, Telecanthus, Lower eyelid coloboma, Epicanthus, Lateral ventricle dilatation, Na...	OMIM:181270
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Downslanted palpebral fissures, Sparse eyebrow, Holoprosencephaly, Ventriculomega...	OMIM:612530
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-optic dyspla...	OMIM:301043
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Paganini-Miozzo Syndrome	Downslanted palpebral fissures, Lateral ventricle dilatation	OMIM:301025
Treacher Collins Syndrome 1	Bilateral microphthalmos, Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Lower ey...	OMIM:154500
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Microphthalmia, Inguinal hernia, Synophrys, Ptosis, Downslanted palpebra...	ORPHA:251014
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Dandy-Walker malformation, Hypoplasia of the iris, Ptosis, Epicant...	OMIM:251300
Colonic Atresia	Gastroschisis, Omphalocele	ORPHA:1198
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Primary Pulmonary Hypoplasia	Pneumothorax, Low-set ears, Pulmonary hypoplasia, Recurrent respiratory infections, Abnormal pulm...	ORPHA:2257
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Gm1 Gangliosidosis	Optic atrophy, Inguinal hernia, Cherry red spot of the macula, Abnormal retinal vascular morpholo...	ORPHA:354
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia	OMIM:612379
Congenital Myopathy 1B, Autosomal Recessive	Facial palsy, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia, Low-set, posteriorly rotated ears	ORPHA:1486
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fibers, ...	OMIM:256850
Postaxial Acrofacial Dysostosis	Ectropion, Downslanted palpebral fissures, Eyelid coloboma	OMIM:263750
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Short palpebral fissure, Neonatal death, Intrauterine growth...	OMIM:251230
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation, Upslanted palpebral fissure, Blepharophimosis, O...	ORPHA:1352
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Deafness, X-Linked 7	Ptosis, Thick eyebrow, Unilateral microphthalmos, Telecanthus	OMIM:301018
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Difficulty walking, Ataxia, Abnormal circulating creatine kinase concentration	ORPHA:98907
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Abnormal brainstem morpho...	ORPHA:163961
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia	ORPHA:1135
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Microphthalmia, Retinal coloboma	ORPHA:2328
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Inguinal hernia, Ptosis, Downslanted palpebral fissures, Agenesis of corpus callo...	OMIM:616449
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Gracile Bone Dysplasia	Hydrocephalus, Microphthalmia, Aniridia, Death in infancy	OMIM:602361
X-Linked Intellectual Disability, Wilson Type	Inguinal hernia, Lateral ventricle dilatation	ORPHA:85290
Glutaric Acidemia I	Hydrocephalus, Symmetrical progressive peripheral demyelination, Lateral ventricle dilatation	OMIM:231670
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Intrauterine growth retardation, Ventricu...	ORPHA:572798
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bilateral ptosis, Microphthalmia, Highly arched eyebrow, Abnormal thalamus morphology, Downslante...	ORPHA:404440
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Kagami-Ogata Syndrome	Inguinal hernia, Microtia, Diastasis recti, Omphalocele, Pulmonary hypoplasia	OMIM:608149
Distal Deletion 10Q	Spina bifida occulta, Facial diplegia, Downslanted palpebral fissures, Epicanthus, Lateral ventri...	ORPHA:96148
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Microphthalmia, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, ...	ORPHA:508498
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Microphthalmia, Epicanthus	ORPHA:3191
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Microtia, Low-set, posteriorly rotated ears, Spina bifida	ORPHA:1327
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI	OMIM:607131
Lumbar Syndrome	Hypospadias, Bifid scrotum, Myelomeningocele, Spina bifida, Bifid uterus, Bladder exstrophy, Ambi...	ORPHA:83628
Oculofaciocardiodental Syndrome	Retinal detachment, Ptosis, Microphthalmia, Highly arched eyebrow	ORPHA:2712
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Telecanthus, Abnormal eyelash morphology, Conjunctival ...	ORPHA:2399
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Sweeney-Cox Syndrome	Upper eyelid coloboma	OMIM:617746
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Death in infancy, Downslanted palpebral fissure...	OMIM:615485
Familial Chylomicronemia Syndrome	Lipemia retinalis, Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concen...	ORPHA:444490
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Antecubital pterygium, Ankyloblepharon	OMIM:619339
Arima Syndrome	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Brainstem dysplasia, Dilated fourth ventri...	OMIM:243910
Duane-Radial Ray Syndrome	Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Spina bifida occulta, Facial palsy,...	OMIM:607323
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Macrophage Activation Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir...	ORPHA:158061
Poland Syndrome	Retinal hamartoma, Spina bifida occulta, Encephalocele	ORPHA:2911
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Sialadenitis, Thyroiditis, Lymp...	ORPHA:449563
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Short palpebral fissure, Omphalocele, Ptosis, Colpocephaly, Holoprose...	OMIM:618820
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Roberts-Sc Phocomelia Syndrome	Stillbirth, Microphthalmia, Hydrocephalus, Severe intrauterine growth retardation, Shallow orbits...	OMIM:268300
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy	ORPHA:79279
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Horizontal eyebrow, Ptosis, Epicanthus, Umbilical hernia, Upslanted pal...	ORPHA:369891
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Highly arched eyebrow, Downslanted palpebral fissures, Colpocephaly, Blepharophimosis, Optic disc...	OMIM:620083
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Abnormality of endocrine pancreas physiology, Jaundice, Aplasia/Hypoplasia o...	ORPHA:93111
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Holoprosencephaly,...	ORPHA:990
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619313
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
1Q21.1 Microdeletion Syndrome	Microphthalmia, Inguinal hernia, Hydrocephalus, Agenesis of corpus callosum, Epicanthus, Intraute...	ORPHA:250989
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Tetrasomy 5P	Hydrocephalus, Low-set ears, Pulmonary hypoplasia, Posteriorly rotated ears, Aplasia/Hypoplasia o...	ORPHA:3309
Smith-Lemli-Opitz Syndrome	Optic atrophy, Aganglionic megacolon, Abnormal eyelash morphology, Aplasia/Hypoplasia affecting t...	ORPHA:818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Hydrocephalus, Retinal atrophy, Hy...	OMIM:253280
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature, Occipital meningocele, Hypo...	OMIM:277170
Acrofrontofacionasal Dysostosis 1	Optic atrophy, S-shaped palpebral fissures, Microphthalmia, Long eyebrows, Long eyelashes, Ptosis	OMIM:201180
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Dubowitz Syndrome	Short palpebral fissure, Microphthalmia, Telecanthus, Inguinal hernia, Hypoplasia of the iris, Sp...	OMIM:223370
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Retinal fold, Tractional re...	ORPHA:91495
Fanconi Anemia, Complementation Group S	Microphthalmia, Long eyelashes, Epicanthus, Upslanted palpebral fissure, Blepharophimosis	OMIM:617883
Waardenburg Syndrome Type 1	Aganglionic megacolon, Meningocele, Spina bifida, Hearing impairment, Congenital sensorineural he...	ORPHA:894
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:260370
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Low-set ears, Pulmonary artery stenosis, Congenital pulmonary airway mal...	OMIM:611812
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Renal Hypodysplasia/Aplasia 1	Low-set ears, Pulmonary hypoplasia	OMIM:191830
Seckel Syndrome 10	Retinal detachment, Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:617253
Sotos Syndrome	Small cell lung carcinoma, Hypospadias, Phimosis, Cryptorchidism, Neuroblastoma, Astrocytoma, Acu...	ORPHA:821
Weaver Syndrome	Inguinal hernia, Diastasis recti, Umbilical hernia, Downslanted palpebral fissures, Epicanthus, L...	OMIM:277590
Aicardi-Goutieres Syndrome 9	Optic atrophy, Chorioretinal atrophy, Intrauterine growth retardation, Lateral ventricle dilatation	OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Hypothalamic atrophy, Lateral ventricle di...	ORPHA:2822
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Death in childhood	OMIM:610756
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Synophrys, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Thick eyebrow,...	OMIM:620098
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology	ORPHA:467166
Moebius Syndrome	Microphthalmia, Facial diplegia, Congenital fibrosis of extraocular muscles, Epicanthus	OMIM:157900
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Severe sensorineural hearing impairment, Meningocele	ORPHA:2003
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi...	OMIM:615710
Fetal Alcohol Syndrome	Microphthalmia, Telecanthus, Ptosis, Epicanthus, Intrauterine growth retardation	ORPHA:1915
Bone Marrow Failure Syndrome 3	Hyperechogenic pancreas, Acute myeloid leukemia, Exocrine pancreatic insufficiency, Cryptorchidis...	OMIM:617052
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration	ORPHA:540
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Upper eyelid coloboma, Anophthalmia, Hydrocephalus, Bran...	OMIM:164210
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Duplication Of Urethra	Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy...	ORPHA:237
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Ventriculomegaly, Dilated third ventricle	ORPHA:500055
Mosaic Trisomy 1	Congenital bilateral ptosis, Microphthalmia, Omphalocele, Downslanted palpebral fissures, Agenesi...	ORPHA:1692
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Low-set ears, Pulmonary hypoplasia, Large fleshy ears, Posteriorly rotated ears	OMIM:616897
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Protruding ear, Hearing abnormality, Low-set, posteriorly rotated ears, Meningocele	ORPHA:2031
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Martsolf Syndrome 1	Microphthalmia, Enlarged sylvian cistern, Inguinal hernia, Downslanted palpebral fissures, Epican...	OMIM:212720
Focal Dermal Hypoplasia	Microphthalmia, Inguinal hernia, Diastasis recti, Omphalocele, Spina bifida, Hypoplasia of the ir...	ORPHA:2092
Aicardi-Goutières Syndrome	Ventriculomegaly, Ptosis, Eyelid coloboma	ORPHA:51
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone...	OMIM:608940
Cousin Syndrome	Short palpebral fissure, Microphthalmia, Hydranencephaly, Hydrocephalus, Narrow palpebral fissure...	OMIM:260660
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Gait disturbance, Hyponatremia, Abnorma...	ORPHA:167
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Short stature, Mitral valve prolapse, Hypoplasia of the midbrain, Cerebel...	OMIM:616202
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida, Sparse eyelashes, Downslanted palpebral fissures, Sparse eyebrow, C...	OMIM:234100
Joubert Syndrome 38	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Sho...	OMIM:619476
Short Tarsus With Absence Of Lower Eyelashes	Hypoplasia of the lower eyelids, Absent lower eyelashes	OMIM:600269
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microphthalmia	OMIM:617244
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystrophy, Hydroce...	ORPHA:2556
Monosomy 13Q14	Microphthalmia, Retinoblastoma, Ptosis, Holoprosencephaly, Epicanthus, Intrauterine growth retard...	ORPHA:1587
Severe Congenital Nemaline Myopathy	Low-set ears, Facial palsy, Facial diplegia, Pulmonary hypoplasia	ORPHA:171430
Braddock-Carey Syndrome 2	Downslanted palpebral fissures, Microphthalmia	OMIM:619981
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Intrauterine growth retardation, Remnants of the hyaloid vasc...	ORPHA:2714
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619802
Acrocephalopolydactylous Dysplasia	Extrapulmonary lobar sequestration, Abnormal pinna morphology, Low-set ears, Omphalocele, Pulmona...	OMIM:200995
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Microphthalmia, Spina bifida occulta, Retinal detachment, Reti...	ORPHA:464
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Abnormality of the orbital region, Optic nerve hypoplasia, Lobar holopr...	ORPHA:468631
Amoebiasis Due To Free-Living Amoebae	Abnormal brainstem MRI signal intensity, Myocardial necrosis, Abnormal midbrain morphology, Abnor...	ORPHA:68
Cat Eye Syndrome	Microphthalmia, Downslanted palpebral fissures, Chorioretinal coloboma, Epicanthus, Umbilical hernia	OMIM:115470
Cryptococcosis	Pneumonia, Cirrhosis, Prostatitis, Lymphoid leukemia, Pleural effusion, Peritonitis, Neoplasm, No...	ORPHA:1546
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia, Retinal coloboma	OMIM:244300
Pierson Syndrome	Microphthalmia, Death in childhood, Hypoplasia of the ciliary body, Retinal detachment, Remnants ...	OMIM:609049
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Prostatitis, Enteroviral hepatitis, Epidid...	OMIM:307200
Microphthalmia, Lenz Type	Microphthalmia, Chorioretinal coloboma, Optic disc coloboma, Ankyloblepharon	ORPHA:568
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Unilateral narrow palpebral fissure	OMIM:618727
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology	ORPHA:79139
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Microphthalmia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retina...	ORPHA:85167
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Lateral Meningocele Syndrome	Meningocele, Sensorineural hearing impairment, Low-set ears, Abnormality of the middle ear ossicl...	ORPHA:2789
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Dilated third ventricle	ORPHA:314404
Gabriele-De Vries Syndrome	Telecanthus, Epiblepharon, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Lateral ventri...	OMIM:617557
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Sparse eyebrow, Lateral ventricle dilatation, Narrow palpebral fissure,...	OMIM:619869
Mosaic Trisomy 9	Microphthalmia, Dandy-Walker malformation, Spina bifida, Intrauterine growth retardation, Ventric...	ORPHA:99776
Cerebrocostomandibular Syndrome	Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Atresia of the external auditory ca...	ORPHA:1393
Autosomal Recessive Multiple Pterygium Syndrome	Hearing abnormality, Inguinal hernia, Spina bifida occulta, Low-set ears, Umbilical hernia, Heari...	ORPHA:2990
Galloway-Mowat Syndrome 3	Microphthalmia, Downslanted palpebral fissures, Epicanthus, Intrauterine growth retardation, Vent...	OMIM:617729
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Congenital Disorder Of Glycosylation, Type Iig	Intrauterine growth retardation, Downslanted palpebral fissures, Upslanted palpebral fissure, Lat...	OMIM:611209
Short-Rib Thoracic Dysplasia 12	Atelectasis, Anencephaly, Inguinal hernia, Hydrocephalus, Abnormal pinna morphology, Low-set ears...	OMIM:269860
Den Hoed-De Boer-Voisin Syndrome	Death in adolescence, Downslanted palpebral fissures, Thick eyebrow, Lateral ventricle dilatation...	OMIM:619229
Spinocerebellar Ataxia Type 1	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cel...	ORPHA:98755
Cockayne Syndrome B	Optic atrophy, Normal pressure hydrocephalus, Microphthalmia, Decreased nerve conduction velocity...	OMIM:133540
Tetraamelia Syndrome 1	Hydrocephalus, Low-set ears, Pulmonary hypoplasia, Gastroschisis, Peripheral pulmonary vessel apl...	OMIM:273395
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level, Telecanthus, Highly arched eyebrow, Pto...	OMIM:110100
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Atelosteogenesis, Type Ii	Pulmonary hypoplasia	OMIM:256050
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, True anophthalmia, Hydrocephalus, Death in infancy, Abnormal eyebr...	ORPHA:1106
Faundes-Banka Syndrome	Broad eyebrow, Hypoplasia of the lower eyelids, Long palpebral fissure, Downslanted palpebral fis...	OMIM:619376
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Microphthalmia, Broad eyebrow, Downslanted palpebral fissures, Epicanthus, Intraut...	OMIM:616975
Distal Triplication 15Q	Hydrocephalus, Sensorineural hearing impairment, Abnormal helix morphology, Microtia, Low-set ear...	ORPHA:314588
3P25.3 Microdeletion Syndrome	Microphthalmia, Abnormal thalamus morphology, Downslanted palpebral fissures, Epicanthus, Blephar...	ORPHA:435638
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature, Growth delay, Abnormal hear...	ORPHA:2754
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Death in childhood	OMIM:301108
Trichothiodystrophy	Ectropion, Bilateral microphthalmos, Macular degeneration, Conjunctivitis, Epicanthus, Umbilical ...	ORPHA:33364
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Cone/cone-rod dystr...	OMIM:203800
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lacrimal duct atresia, Microphthalmia, Lateral ventricle dilatation	OMIM:300952
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral ptosis, Unilateral microphthalmos	OMIM:619318
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Agammaglobulinemia, X-Linked	Prostatitis, Recurrent lower respiratory tract infections, Hepatocellular carcinoma, Enteroviral ...	OMIM:300755
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermia, Urogenital sin...	ORPHA:1772
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Pulmonary hypoplasia	OMIM:312150
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Optic atrophy, Cochlear degeneration	ORPHA:95433
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Microphthalmia, Dandy-Walker malformation, Epicanthus, Upslanted palpebr...	OMIM:156610
Triploidy	Hydrocephalus, Holoprosencephaly, Low-set, posteriorly rotated ears, Meningocele	ORPHA:3376
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Phth...	OMIM:221900
Steinfeld Syndrome	Microphthalmia, Holoprosencephaly, Retinal coloboma	OMIM:184705
Noonan Syndrome 14	Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Lateral ventricle dilatation, Lacrima...	OMIM:619745
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Pulmonary hypoplasia	ORPHA:85166
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Epicanthus	OMIM:618652
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Beckwith-Wiedemann Syndrome	Rhabdomyosarcoma, Hepatomegaly, Leiomyosarcoma, Abnormal pancreas morphology, Gonadoblastoma, Neu...	ORPHA:116
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Difficulty walking, Elevated circulating creatine kinase concentration	OMIM:610717
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, Decreased testicular s...	OMIM:610644
Microphthalmia With Limb Anomalies	Short palpebral fissure, Microphthalmia, Anophthalmia, Abnormal eyelash morphology, Downslanted p...	OMIM:206920
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Holoprosencephaly	ORPHA:250999
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Ventriculomegaly, Decreased response to growth hormone stimulation test, Microphthalmia, Severe i...	OMIM:241410
Spondyloenchondrodysplasia	Ventriculomegaly, Decreased response to growth hormone stimulation test, Abnormal lateral ventric...	ORPHA:1855
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Phace Syndrome	Retinal vascular malformation, Microphthalmia, Abnormality of the orbital region, Optic nerve hyp...	ORPHA:42775
Diaphanospondylodysostosis	Low-set ears, Pulmonary hypoplasia, Inguinal hernia	OMIM:608022
Fetal Akinesia Deformation Sequence	Pulmonary hypoplasia, Posteriorly rotated ears	ORPHA:994
Microphthalmia, Syndromic 9	Bilateral lung agenesis, Inguinal hernia, Pulmonary artery atresia, Low-set ears, Agenesis of pul...	OMIM:601186
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev...	ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
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
22Q11.2 Deletion Syndrome	Optic atrophy, Microphthalmia, Aganglionic megacolon, Telecanthus, Meningocele, Hydrocephalus, In...	ORPHA:567
Fountain Syndrome	Sensorineural hearing impairment, Spina bifida occulta, Spina bifida	ORPHA:3219
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypothalamic...	OMIM:206900
Scalp-Ear-Nipple Syndrome	Palpebral edema, Telecanthus, Eyelid coloboma	ORPHA:2036
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Renal Cysts And Diabetes Syndrome	Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Biliary tract abnormality, Atretic vas def...	OMIM:137920
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Pulmonary hypoplasia	OMIM:253290
Hypoglossia-Hypodactyly Syndrome	Abnormal cranial nerve morphology, Gastroschisis, Telecanthus, Death in infancy	ORPHA:989
Orofaciodigital Syndrome Type 14	Telecanthus, Dandy-Walker malformation, Dilated third ventricle, Retinal coloboma, Dilated fourth...	ORPHA:434179
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morph...	ORPHA:370997
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia	OMIM:614225
Rothmund-Thomson Syndrome, Type 2	Basal cell carcinoma, Annular pancreas, Squamous cell carcinoma, Hypogonadism, Osteosarcoma, Cryp...	OMIM:268400
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Ectropion, Microphthalmia	OMIM:616395
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia	ORPHA:158048
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Death in childhood, Lateral ventricle dilatation	OMIM:619847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal helix morphology, Spina bifida	ORPHA:1120
Cog5-Cdg	Intrauterine growth retardation, Neurogenic bladder, Lateral ventricle dilatation	ORPHA:263487
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hydrocephalus, Congenital aphakia, Agenesis of corpus callosum	ORPHA:137675
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly	OMIM:601374
Ohdo Syndrome, X-Linked	Microphthalmia, Inguinal hernia, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanth...	OMIM:300895
Lethal Congenital Contracture Syndrome 10	Low-set ears, Pulmonary hypoplasia, Omphalocele	OMIM:617022
Atelis Syndrome 2	Short palpebral fissure, Microphthalmia, Remnants of the hyaloid vascular system, Epicanthus, Vit...	OMIM:620185
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Epicanthus	OMIM:618494
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Ptosis, Ch...	ORPHA:959
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Dandy-Walker malformation, Sparse eyelashes, Downslanted palpebral fissures, Spar...	OMIM:302960
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct proliferation, Pulmonary hypoplas...	OMIM:208500
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Low-set, posteriorly rotated ears, Spina bifida occulta, Umbilical hernia	ORPHA:2311
Microsporidiosis	Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morphology, Abnormality of the pa...	ORPHA:2552
Treacher Collins Syndrome 2	Lower eyelid coloboma, Downslanted palpebral fissures	OMIM:613717
Fanconi Anemia	Short palpebral fissure, Microphthalmia, Aganglionic megacolon, Hydrocephalus, Abnormal eyelid mo...	ORPHA:84
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Neuroocular Syndrome	Microphthalmia, Highly arched eyebrow, Remnants of the hyaloid vascular system, Long eyelashes, S...	OMIM:619539
Secondary Short Bowel Syndrome	Gastroschisis, Aganglionic megacolon	ORPHA:95427
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Hypothyroidism, Exocrine pancreatic insufficiency, Shawl scrotum, Hepatic fibrosis,...	OMIM:616263
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Ptosis, Microphthalmia, Blepharophimosis	ORPHA:2728
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Microphthalmia, Telecanthus, Synophrys, Thin eyebrow, Delayed peripheral...	ORPHA:364577
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Retinal capillary...	ORPHA:892
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Dandy-Walker malformation, Downslanted palpebral fissures, Holoprosencephaly, Epi...	ORPHA:1052
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia, Omphalocele	OMIM:145420
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Renal Agenesis, Bilateral	Low-set ears, Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Atelosteogenesis Type I	Pulmonary hypoplasia, Abnormal pancreatic duct morphology	ORPHA:1190
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Aniridia, Spina bifida occulta, Inguinal hernia, Hydrocephalus, An...	OMIM:305600
Amish Lethal Microcephaly	Optic atrophy, Spina bifida	ORPHA:99742
Incontinentia Pigmenti	Optic atrophy, Microphthalmia, Retinal detachment, Retinal vascular proliferation, Retinal hemorr...	OMIM:308300
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Low-set ears, Abnormality of the middle ear ossicles, Conductive hear...	OMIM:130720
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic fibrosis	OMIM:232220
Aceruloplasminemia	Elevated hepatic iron concentration, Abnormal pancreas morphology	ORPHA:48818
Vater/Vacterl Association	Intrauterine growth retardation, Occipital encephalocele, Patent urachus, Spina bifida	OMIM:192350
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Dandy-Walker malformation, Omphalocele, Agenesis of corpus...	ORPHA:2059
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Retinal detachment, Dandy-Walker malformation, Remnants of the hyal...	OMIM:300166
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:280365
Basal Cell Nevus Syndrome 1	Hydrocephalus, Orbital cyst, Microphthalmia, Spina bifida	OMIM:109400
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Short stature, Abnormal brainstem morphology	ORPHA:2720
Stevenson-Carey Syndrome	Downslanted palpebral fissures, Microphthalmia	OMIM:611961
Oligomeganephronia	Pulmonary venous occlusion, Hearing impairment, Pulmonary hypoplasia, Optic disc coloboma, Branch...	ORPHA:2260
Thanatophoric Dysplasia, Type I	Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Oculodentodigital Dysplasia, Autosomal Recessive	Short palpebral fissure, Microphthalmia, Telecanthus, Sparse eyelashes, Downslanted palpebral fis...	OMIM:257850
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
47,Xyy Syndrome	Hydrocephalus, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Abnormal brainstem morp...	ORPHA:8
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Supernumerary nipple, Facial hemangioma	OMIM:605039
Mend Syndrome	Microphthalmia, Telecanthus, Hydrocephalus, Dandy-Walker malformation, Abnormal auditory evoked p...	ORPHA:401973
Cockayne Syndrome Type 3	Microphthalmia, Keratoconjunctivitis sicca, Retinal dystrophy, Peripheral axonal neuropathy, Neur...	ORPHA:90324
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI	OMIM:617563
Hydrolethalus Syndrome 1	Stillbirth, Microphthalmia, Anencephaly, Dandy-Walker malformation, Omphalocele, Agenesis of corp...	OMIM:236680
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Fanconi Anemia, Complementation Group D2	Annular pancreas, Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis, Leukemia	OMIM:227646
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Microphthalmia	OMIM:127000
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Downslanted palpebral fissures, Lateral ventricle dilatation	ORPHA:457279
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ...	OMIM:611584
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Hydrocephalus, Dandy-Walker malformation, Death in infancy, Ptosis, Colpoc...	OMIM:270400
Congenital Disorder Of Glycosylation, Type Iim	Thick eyebrow, Epicanthus, Lateral ventricle dilatation, Intrauterine growth retardation, Rod-con...	OMIM:300896
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Pulmonary hypoplasia, Ambiguous genitalia, Hepatic fibrosis, Hamartoma of to...	OMIM:263520
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Scimitar Syndrome	Pneumothorax, Bronchogenic cyst, Pulmonary sequestration, Pulmonary artery hypoplasia, Abnormal l...	ORPHA:185
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration	ORPHA:98908
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Death in childhood, Hydrocephalus, Death in infancy, Sparse eyelashes, Sparse eyebrow...	OMIM:210710
Gorham-Stout Disease	Hearing impairment, Abnormality of the internal auditory canal	ORPHA:73
Fanconi Anemia, Complementation Group L	Hydrocephalus, Microphthalmia, Upslanted palpebral fissure, Intrauterine growth retardation	OMIM:614083
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Myelodysplasia	ORPHA:1318
Trisomy 8P	Abnormal lung lobation, Annular pancreas, Neuroblastoma, Micropenis, Recurrent upper respiratory ...	ORPHA:264450
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Blepharophimosis, Lateral ventricle dilatation	ORPHA:293725
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Dysdiadochokinesis, Pigmentary retinopathy, Gait ataxia, Hypercholesterolem...	OMIM:606721
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Pulmonary hypoplasia	OMIM:314390
Chromosome 17Q12 Duplication Syndrome	Downslanted palpebral fissures, Microphthalmia	OMIM:614526
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia	ORPHA:275761
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy	OMIM:619418
Shwachman-Diamond Syndrome 2	Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly	OMIM:617941
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Almond-shap...	ORPHA:177907
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Pulmonary hypoplasia	OMIM:151210
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Achondroplasia	Hydrocephalus, Conductive hearing impairment, Recurrent otitis media, Pulmonary hypoplasia	OMIM:100800
8Q21.11 Microdeletion Syndrome	Microphthalmia, Ptosis, Downslanted palpebral fissures, Epicanthus, Blepharophimosis	ORPHA:284160
Trisomy 20P	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Abnormal autonomic nervous syst...	ORPHA:261318
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Facial palsy, Intrauterine growth retardation, Downslanted palpebral fissures, Sp...	OMIM:620186
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypothalamic hamartoma, Pa...	OMIM:146510
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Microphthalmia, Synophrys, Ptosis, Downslanted palpebral fissures, Epica...	OMIM:616734
Igg4-Related Kidney Disease	Prostatitis, Pancreatitis, Abnormality of the anterior pituitary, Sclerosing cholangitis, Pleurit...	ORPHA:449395
Feingold Syndrome	Annular pancreas, Abnormality of the spleen	ORPHA:1305
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Downslanted palpebral fissures, Microphthalmia, Sparse eyebrow	ORPHA:35173
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Low-set, posteriorly rotated ears	ORPHA:958
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Portal hypertension, Pulmonary hypoplasia, Splenomegaly, Hepat...	OMIM:263200
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Abnormal brainstem morphology, Cerebellar atrophy, Short stature, Intrauterine growth retardation...	OMIM:301310
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Pulmonary hypoplasia	OMIM:231680
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Pulmonary hypoplasia	ORPHA:2847
Cutis Laxa, Autosomal Recessive, Type Ic	Emphysema, Atelectasis, Inguinal hernia, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical her...	OMIM:613177
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Anterior pituitary agenesis, Alobar holoprosencephal...	OMIM:157170
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia	ORPHA:79259
Heart And Brain Malformation Syndrome	Dandy-Walker malformation, Microphthalmia	OMIM:616920
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Microphthalmia, Dandy-Walker malformation, Telecanthus	ORPHA:2612
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Disproportionate short-limb short s...	OMIM:619479
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short umbilical cord, Thick eyebrow, Lateral ventricle dilatation, Epiblepharon	OMIM:618367
Cockayne Syndrome	Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Keratoconjunctivitis sicca, R...	ORPHA:191
Fliedner-Zweier Syndrome	Meningocele	OMIM:620511
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Hydrocephalus, Synophrys, Horizontal eyebrow, Downslanted palpebral fissures, Opti...	OMIM:607872
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Xeroderma Pigmentosum, Complementation Group D	Ectropion, Microphthalmia, Entropion, Conjunctivitis, Keratoconjunctivitis sicca	OMIM:278730
Raine Syndrome	Mixed hearing impairment, Hydrocephalus, Abnormal pinna morphology, Low-set ears, Pulmonary hypop...	OMIM:259775
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Bilateral ptosis, Synophrys, Downslanted palpebral fissures, Sparse eyebrow, Colpocephaly	ORPHA:477993
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iris, Peripapillary atrophy,...	OMIM:175780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Pulmonary hypoplasia, Large fleshy ears, Posteriorly rotated ears, Overfolded helix...	OMIM:614080
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Dysplastic corpus callosum, Broad lateral eyebrow, Optic nerve hypoplasia, Sparse ...	ORPHA:500150
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Pulmonary hypoplasia	OMIM:616866
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Inguinal hernia, Highly arched eyebrow, Optic ner...	ORPHA:508488
Nephronophthisis 13	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts	OMIM:614377
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Hypermyelinated retinal nerve fibers, Shallow orbits	OMIM:601812
Peroxisome Biogenesis Disorder 1A (Zellweger)	Sensorineural hearing impairment, Abnormal helix morphology, Low-set ears, Hearing impairment, Pu...	OMIM:214100
Genitopatellar Syndrome	Hearing impairment, Pulmonary hypoplasia, Low-set ears	ORPHA:85201
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Streak ovary, Teratoma, Ependymoma, Central hypothyroidism, Recurr...	ORPHA:798
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Necrotizing Enterocolitis	Gastroschisis	ORPHA:391673
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Fontaine Progeroid Syndrome	Short palpebral fissure, Microphthalmia, Aplastic/hypoplastic lacrimal glands, Hydrocephalus, Hyp...	OMIM:612289
Alagille Syndrome 1	Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia, Pigmentary retinopathy	OMIM:118450
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Buphthalmos, Inguinal hernia, Death in infancy, Umbilical hernia, Ventriculomegal...	ORPHA:534
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Shallow orbits	OMIM:617306
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Multiple Pterygium Syndrome, Escobar Variant	Inguinal hernia, Exostosis of the external auditory canal, Low-set ears, Conductive hearing impai...	OMIM:265000
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Optic atrophy, Interstitial emphysema, Pulmonary hypoplasia	OMIM:619708
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Medulloblastoma, Nephroblastoma, Recurrent respiratory infections	ORPHA:97297
Congenital Myopathy 17	Pulmonary hypoplasia, Respiratory tract infection, Low-set ears	OMIM:618975
Fryns Syndrome	Hypospadias, Chylothorax, Bifid scrotum, Bicornuate uterus, Pulmonary hypoplasia, Ectopic pancrea...	OMIM:229850
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Neu-Laxova Syndrome	Macrotia, Pulmonary hypoplasia, Spina bifida	ORPHA:2671
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Pulmonary hypoplasia, Sensorineural hearing impairment, Prune belly	OMIM:619351
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Atelectasis, Repeated pneumothoraces, Hydrocephalus, Low-set ears, Pulm...	ORPHA:536467
Gaucher Disease, Perinatal Lethal	Low-set ears, Microtia, Pulmonary hypoplasia	OMIM:608013
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Posteriorly rotated ears, Spina bifida, Umbilical hernia	OMIM:613776
Monosomy 9P	Microphthalmia, Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Thick eyebrow, ...	ORPHA:261112
Mosaic Trisomy 16	Large placenta, Abnormal ear morphology, Hearing impairment, Abnormal lung morphology, Pulmonary ...	ORPHA:1708
Familial Multiple Lipomatosis	Chorioretinitis, Hyperlipidemia	ORPHA:199276
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Keratoconjunctivitis sicca, Death in infancy	OMIM:601675
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Kabuki Syndrome 1	Bilateral ptosis, Hydrocephalus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Sparse ey...	OMIM:147920
3Q29 Microduplication Syndrome	Downslanted palpebral fissures, Microphthalmia, Aniridia	ORPHA:251038
Granulomatosis With Polyangiitis	Prostatitis, Pancreatitis, Pleuritis, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Re...	ORPHA:900
17Q12 Microdeletion Syndrome	Shawl scrotum, Cryptorchidism, Pancreatic aplasia	ORPHA:261265
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Hypothyr...	ORPHA:699
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Waardenburg Syndrome, Type 1	Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida	OMIM:193500
1P36 Deletion Syndrome	Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia of penis...	ORPHA:1606
Congenital Tracheomalacia	Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous...	ORPHA:95430
Esophageal Atresia	Bronchitis, Omphalocele, Hearing impairment, Pulmonary hypoplasia, Abnormality of the ear, Recurr...	ORPHA:1199
Tarp Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlobe, H...	ORPHA:2886
Xq21 Microdeletion Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine...	ORPHA:1435
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Charge Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Anophthalmia, Facial palsy...	OMIM:214800
Lymphedema-Distichiasis Syndrome	Ectropion, Microphthalmia, Distichiasis, Ptosis, Conjunctivitis	OMIM:153400
Keppen-Lubinsky Syndrome	Abnormally large globe, Lateral ventricle dilatation, Shallow orbits	OMIM:614098
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Polycystic liver disease, Reduced sperm motility, Hepatic ...	ORPHA:730
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,...	OMIM:267010
Autosomal Recessive Polycystic Kidney Disease	Jaundice, Abnormal intrahepatic bile duct morphology, Cholangitis, Periportal fibrosis, Cholestas...	ORPHA:731
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Congenital Myopathy 22B, Severe Fetal	Pulmonary hypoplasia, Pleural effusion, Low-set ears	OMIM:620369
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Retinal dystrophy, Cone/cone-rod d...	ORPHA:110
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Keratoconjunctivitis sicca	ORPHA:1806
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Pulmonary hypoplasia	ORPHA:96179
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Trichiasis, Highly arched eyebrow, Ptosis, Downslanted pal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Trichiasis, Highly arched eyebrow, Ptosis, Downslanted pal...	ORPHA:353277
Pearson Marrow-Pancreas Syndrome	Macronodular cirrhosis, Pancreatic fibrosis, Exocrine pancreatic insufficiency, Hepatomegaly	OMIM:557000
Distal Deletion 12Q	Annular pancreas, Biliary atresia, Unilateral cryptorchidism, Pituitary adenoma, Micropenis	ORPHA:96149
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Microphth...	OMIM:603467
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Phthisis bulbi	OMIM:259770
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Abnormal lung lobation, Annular pancreas, Hypospadias, Pleural effusion, Bicornuate uterus, Pulmo...	OMIM:265380
Achondrogenesis, Type Ia	Low-set ears, Pulmonary hypoplasia	OMIM:200600
Alg9-Cdg	Abnormal lung lobation, Low-set, posteriorly rotated ears, Low-set ears, Omphalocele, Pulmonary h...	ORPHA:79328
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia, Inguinal hernia	OMIM:271520
Oculodentodigital Dysplasia	Short palpebral fissure, Microphthalmia, Neurogenic bladder, Epicanthus, Blepharophimosis	OMIM:164200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Short palpebral fissure, Colpocephaly	ORPHA:75857
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Teebi-Shaltout Syndrome	Highly arched eyebrow, Ptosis, Microphthalmia, Telecanthus	OMIM:272950
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Stuve-Wiedemann Syndrome 1	Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy, Abnormal autonomic nervous system ph...	OMIM:601559
Atypical Werner Syndrome	Hypertriglyceridemia, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Short stature, Abnormal midbrain morphology	ORPHA:293987
Pallister-Hall Syndrome	Microphthalmia, Inguinal hernia, Pituitary hypothyroidism, Hypothalamic hamartoma, Panhypopituita...	ORPHA:672
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Rodrigues Blindness	Microphthalmia	OMIM:268320
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Optic nerve hypoplasia, Low-set ears, Hearing...	ORPHA:536471
Gangliocytoma	Abnormal cerebellum morphology, Abnormal brainstem morphology	ORPHA:251937
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hearing impairment, Pulmonary hypoplasia, Umbilical hernia	OMIM:308050
Atelosteogenesis Type Ii	Low-set ears, Pulmonary hypoplasia	ORPHA:56304
Branchiooculofacial Syndrome	Microphthalmia, Telecanthus, Anophthalmia, Branchial anomaly, Facial palsy, Retinal coloboma, Pto...	OMIM:113620
3Q29 Microdeletion Syndrome	Downslanted palpebral fissures, Microphthalmia	ORPHA:65286
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas	OMIM:618162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Upslanted palpebral fissure, Lateral ventricle dilatation, Death in infancy	OMIM:300868
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Inguinal hernia, Ptosis, Antecubital pterygium, Epicanthus, ...	OMIM:609945
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Witteveen-Kolk Syndrome	Dysplastic corpus callosum, Short palpebral fissure, Decreased response to growth hormone stimula...	OMIM:613406
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona...	ORPHA:99050
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Microtia, third degree, Low-set ears, Conductive hearing impairment, Pul...	ORPHA:2753
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypertriglyceridemia, Optic disc hypoplasia, Truncal ataxia, Ataxia, Pigmentary re...	ORPHA:3455
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Microphthalmia, Epicanthus	OMIM:227645
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Glycogen Storage Disease Ia	Lipemia retinalis, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232200
Nail-Patella Syndrome	Sensorineural hearing impairment, Spina bifida	OMIM:161200
Lathosterolosis	Hearing impairment, Meningocele	ORPHA:46059
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Holoprosencephaly, Omphalocele	ORPHA:3186
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit...	ORPHA:157
Degcags Syndrome	Microphthalmia, Abnormal eyelash morphology, Synophrys, Long eyelashes, Ptosis, Abnormal eyebrow ...	OMIM:619488
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Meier-Gorlin Syndrome 7	Sensorineural hearing impairment, Microtia, Low-set ears, Hearing impairment, Pulmonary hypoplasia	OMIM:617063
Meacham Syndrome	Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Pulmonary hypoplasia, Part...	OMIM:608978
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia, Aortopulmonary window, Low-set ears, Pulmonary artery hypoplasia, Pulmona...	OMIM:620025
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr...	OMIM:256040
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Microphthalmia, Telecanthus, Synophrys, Thin eyebrow, Intrauterine growt...	OMIM:608670
Ogden Syndrome	Pulmonary edema, Recurrent otitis media, Inguinal hernia, Low-set ears, Pulmonary artery stenosis...	OMIM:300855
Mowat-Wilson Syndrome	Microphthalmia, Aganglionic megacolon, Broad eyebrow, Ptosis, Downslanted palpebral fissures, Abn...	OMIM:235730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla...	ORPHA:228308
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Fanconi Anemia, Complementation Group N	Microphthalmia, Epicanthus	OMIM:610832
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Low-set ears, Spina bifida, Posteriorly rotated ears, Thickened helices,...	OMIM:619480
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Retinal dystrophy, Anophthalmia, Orbital cyst, Ventricu...	OMIM:607932
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Abnormal pinna morphology, Microtia, Pulmonary hypoplasia	OMIM:617925
Greenberg Dysplasia	Abnormal lung lobation, Large placenta, Pulmonary hypoplasia, Low-set ears	OMIM:215140
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos	OMIM:618874
Lethal Congenital Contracture Syndrome 9	Low-set ears, Short umbilical cord, Pulmonary hypoplasia	OMIM:616503
Bosma Arhinia Microphthalmia Syndrome	Lacrimal duct atresia, Microphthalmia, Inguinal hernia, Synophrys	OMIM:603457
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Truncal ataxia	OMIM:264090
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus	ORPHA:1236
Hallermann-Streiff Syndrome	Sparse eyelashes, Sparse eyebrow, Microphthalmia, Telecanthus	ORPHA:2108
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Meningocele	ORPHA:1010
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Hydrocephalus, Sparse eyelashes, Sparse eyebrow, Agenes...	ORPHA:3472
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal brainstem morphology, Short stature, Growth delay, Ab...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal brainstem morphology, Short stature, Growth delay, Ab...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal brainstem morphology, Short stature, Growth delay, Ab...	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal brainstem morphology, Short stature, Growth delay, Ab...	ORPHA:220386
Blomstrand Lethal Chondrodysplasia	Low-set ears, Pulmonary hypoplasia	ORPHA:50945
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal brainstem morphology, Ventricular septal defect, Aortic valve stenosis, Intrauterine gro...	ORPHA:464311
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Inguinal hernia, Anophthalmia	ORPHA:2250
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Acrorenal-Mandibular Syndrome	Low-set ears, Pulmonary hypoplasia, Posteriorly rotated ears	OMIM:200980
Phocomelia, Schinzel Type	Protruding ear, Meningocele	ORPHA:2879
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Microgastria-Limb Reduction Defect Syndrome	Hiatus hernia, Microphthalmia, Agenesis of corpus callosum, Anophthalmia	ORPHA:2538
Myhre Syndrome	Microphthalmia, Thick eyebrow, Intrauterine growth retardation, Narrow palpebral fissure, Blephar...	OMIM:139210
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large placenta, Microtia, Diastasis recti, Omphalocele, Pulmonary artery stenosis, Hernia of the ...	ORPHA:96334
Alkaptonuria	Black pigment gallstones, Prostatitis, Hypothyroidism	ORPHA:56
Fetal Akinesia Deformation Sequence 1	Short umbilical cord, Small placenta, Hydrocephalus, Low-set ears, Pulmonary hypoplasia, Posterio...	OMIM:208150
Penile Agenesis	Pulmonary hypoplasia, Bilateral lung agenesis, Posteriorly rotated ears, Cloacal abnormality	ORPHA:49
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Wilson Disease	Face of the giant panda sign	OMIM:277900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Microphthalmia, Blepharophimosis	OMIM:620005
Renpenning Syndrome 1	Microphthalmia, Death in childhood, Telecanthus, Sparse lateral eyebrow, Epicanthus, Upslanted pa...	OMIM:309500
Osteogenesis Imperfecta	Mixed hearing impairment, Inguinal hernia, Hydrocephalus, Progressive hearing impairment, Hearing...	ORPHA:666
Fibular Hemimelia	Spina bifida	ORPHA:93323
Absence Of The Pulmonary Artery	Pulmonary edema, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurrent respiratory...	ORPHA:980
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Inguinal hernia, Hydrocephalus, Anterior pituitary hypoplasia, Neonatal deat...	OMIM:619534
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:236100
Traboulsi Syndrome	Spontaneous conjunctival filtering bleb, Downslanted palpebral fissures, Microphthalmia	OMIM:601552
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Recurrent otitis media, Hydrocephalus, Spina bifida, Hearing impairment, Macrotia,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Recurrent otitis media, Hydrocephalus, Spina bifida, Hearing impairment, Macrotia,...	ORPHA:363958
Choreoacanthocytosis	Peripheral axonal neuropathy, Blepharospasm, Abnormal autonomic nervous system physiology, Decrea...	ORPHA:2388
Truncus Arteriosus	Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P...	ORPHA:3384
Dpagt1-Cdg	Hearing impairment, Optic atrophy, Pulmonary hypoplasia, Diffuse optic disc pallor	ORPHA:86309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Pulmonary hypoplasia, Inguinal hernia	ORPHA:83617
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Congenit...	ORPHA:2255
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Pulmonary hypoplasia	OMIM:236700
Campomelic Dysplasia	Hydrocephalus, Low-set ears, Spina bifida, Hearing impairment, Conductive hearing impairment, Spi...	OMIM:114290
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Microphthalmia, Aganglionic megacolon, Broad eyebrow, Telecanthus, Highly arched e...	ORPHA:261552
Distal Deletion 15Q	Hearing impairment, Pulmonary hypoplasia, Low-set ears	ORPHA:1596
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Aganglionic megacolon, Broad eyebrow, Telecanthus, Retinal coloboma, Ptosis, Late...	ORPHA:261537
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short palpebral fissure, Microphthalmia, Long lower eyelashes, Highly arched eyebrow, Synophrys, ...	OMIM:612474
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Diffuse cerebellar atrophy	ORPHA:93256
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Tetrasomy 9P	Abnormal earlobe morphology, Hydrocephalus, Pulmonary hypoplasia, Umbilical hernia, Glue ear	ORPHA:3310
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Spina bifida	OMIM:162200
Genitopatellar Syndrome	Downslanted palpebral fissures, Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Restrictive Dermopathy	Short umbilical cord, Large placenta, Small placenta, Low-set ears, Pulmonary hypoplasia	ORPHA:1662
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Townes-Brocks Syndrome	Microphthalmia, Chorioretinal coloboma, Agenesis of corpus callosum, Limbal dermoid, Blepharophim...	ORPHA:857
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Rubinstein-Taybi Syndrome 1	Spina bifida occulta, Low-set ears, Spina bifida, Hearing impairment, Simple ear	OMIM:180849
Restrictive Dermopathy 1	Low-set ears, Short umbilical cord, Hydropic placenta, Pulmonary hypoplasia	OMIM:275210
Cutis Laxa, Autosomal Recessive, Type Ib	Abnormal pinna morphology, Low-set ears, Spina bifida	OMIM:614437
Thrombocytopenia-Absent Radius Syndrome	Spina bifida	OMIM:274000
Fabry Disease	Optic atrophy, Hyperlipidemia, Abnormal circulating lipid concentration	ORPHA:324
Cardiac-Urogenital Syndrome	Scimitar anomaly, Patent urachus, Pulmonary hypoplasia, Partial anomalous pulmonary venous return	OMIM:618280
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Ulbright-Hodes Syndrome	Pneumothorax, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears	ORPHA:3404
Mowat-Wilson Syndrome	Microphthalmia, Aganglionic megacolon, Broad eyebrow, Telecanthus, Retinal coloboma, Horizontal e...	ORPHA:2152
Alström Syndrome	Hypertriglyceridemia, Drusen, Retinal dystrophy, Hyperlipidemia, Cone/cone-rod dystrophy, Ataxia,...	ORPHA:64
Lowe Oculocerebrorenal Syndrome	Ventriculomegaly, Microphthalmia	OMIM:309000
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia	OMIM:241080
Microphthalmia, Syndromic 1	Microphthalmia, Aganglionic megacolon, Anophthalmia, Ptosis, Chorioretinal coloboma, Optic disc c...	OMIM:309800
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Low-set ears, Spina bifida, Conductive hearing impairment, Posteriorly rotated ear...	OMIM:304120
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Marfan Syndrome	Meningocele	ORPHA:558
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia	ORPHA:3464
Pallister-Killian Syndrome	Inguinal hernia, Stenosis of the external auditory canal, Low-set ears, Omphalocele, Hearing impa...	OMIM:601803
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Pulmonary hypoplasia, Omphalocele	ORPHA:93271
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Cardiac total anomalous pulmonary venou...	ORPHA:99125
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Abnormal pinna morphology, Occipital meningocele, Long ear	OMIM:276820
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665

Histopathology

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

There is no histopathology data for 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.

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Scrib MGI:2145950

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

OPT E9.5

X-ray

Histopathology

X-ray

Embryo LacZ

Gross Pathology and Tissue Collection

X-ray

Gross Morphology Embryo E9.5

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

Combined SHIRPA and Dysmorphology

Immunophenotyping

Immunophenotyping

Human diseases caused by Scrib mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data