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Gene: Aldh1a3 MGI:1861722

Gene Summary

Name:

aldehyde dehydrogenase family 1, subfamily A3

Synonyms:

retinaldehyde dehydrogenase 3, ALDH6, RALDH3, V1

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
hyperactivity	Aldh1a3^{tm1b(KOMP)Wtsi}	HET	Early adult	1.01×10^-07
microphthalmia	Aldh1a3^{tm1b(KOMP)Wtsi}	HOM	E15.5	0.00
increased circulating alkaline phosphatase level	Aldh1a3^{tm1b(KOMP)Wtsi}	HET	Early adult	6.50×10^-05
preweaning lethality, complete penetrance	Aldh1a3^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	Not available
Kidney	Section images	heterozygote	100% (2 of 2)
Large intestine	Section images	heterozygote	100% (2 of 2)
Lymph node	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Peripheral nervous system	Section images	heterozygote	100% (2 of 2)
Peyer's patch	Section images	heterozygote	Ambiguous
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thyroid gland	Section images	heterozygote	Ambiguous
Urinary bladder	Section images	heterozygote	Ambiguous
White adipose tissue	Section images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thalamus	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available

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

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	Ambiguous
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 2)
Dorsal root ganglion	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	100% (2 of 2)
Ear	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	Ambiguous
Fronto-nasal process	N/A	heterozygote	Ambiguous
Fronto-nasal process	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	100% (2 of 2)
Nose	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Ambiguous
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	Ambiguous
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	Ambiguous

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

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

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

12 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

9 Images

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Adult LacZ

LacZ Images Section

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Aldh1a3 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 Aldh1a3 (2 diseases)
Human diseases predicted to be associated with Aldh1a3 (965 diseases)

The table below shows human diseases associated to Aldh1a3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nanophthalmos		Microphthalmia	ORPHA:35612
Microphthalmia, Isolated 8		Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113

The table below shows human diseases predicted to be associated to Aldh1a3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Schizophrenia 15	Hyperactivity	OMIM:613950
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Perching Syndrome	Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Rod-cone dystrophy	OMIM:617055
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Vitamin K Antagonist Embryofetopathy	Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Optic atro...	ORPHA:1914
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Prominent nose, Micrognathia, Dyspnea, Patent ductus art...	OMIM:620185
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Narrow palate, Respiratory insufficien...	ORPHA:207
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Frontofacionasal Dysplasia	Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Brushfield spots, Bifid nasal t...	ORPHA:1791
Gombo Syndrome	Microphthalmia	OMIM:233270
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Cryptorch...	ORPHA:1716
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst...	ORPHA:141152
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory...	ORPHA:1832
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Death in infancy, Cataract, Remnants of the hyaloid vascular s...	OMIM:614643
Nanophthalmos 4	Microphthalmia	OMIM:615972
Supernumerary Nostril	Microcornea, Supernumerary naris, Choanal atresia, Developmental cataract	ORPHA:141096
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Acromelic Frontonasal Dysostosis	Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Broad nasal tip, ...	OMIM:603671
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa...	ORPHA:521308
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Asthm...	ORPHA:2714
Nanophthalmos	Microphthalmia	ORPHA:35612
Bamforth-Lazarus Syndrome	Retrognathia, Choanal atresia, Cleft palate	ORPHA:1226
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Abnormal nasal morphology, Cleft palate, Bilateral cleft lip and p...	ORPHA:1104
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Patent ductus arteriosus, Bulbous nose, ...	ORPHA:284169
Burn-Mckeown Syndrome	Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilate...	OMIM:608572
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Respiratory insufficiency, Convex nasa...	ORPHA:93262
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Microcephaly 10, Primary, Autosomal Recessive	Prominent nasal bridge, Cataract, Choanal atresia, Micrognathia	OMIM:615095
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Respiratory insufficiency, Sho...	ORPHA:1895
Bamforth-Lazarus Syndrome	Cleft palate, Bilateral choanal atresia	OMIM:241850
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Optic disc coloboma, Cleft pal...	ORPHA:52055
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Aplasia/Hypoplasia of the tongue, Choanal atresia, Dyspnea, Wide nasal brid...	ORPHA:2759
Choanal Atresia And Lymphedema	High palate, Choanal atresia	OMIM:613611
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Cryptorchidism, Anosmia, Cleft palate, Hyposmia, Iris coloboma	OMIM:147950
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Bilateral cryptorchidism, Esophageal a...	OMIM:619859
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Patent ductus arteriosus, Opti...	OMIM:300472
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Optic nerve hypoplasia, High, narrow palate, Depressed nasal ridge, Cleft palate...	OMIM:607597
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Lowry-Maclean Syndrome	Corneal opacity, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of ...	ORPHA:2409
Marcus-Gunn Syndrome	Choanal atresia, Morning glory anomaly, Cleft palate, Abnormality of the sense of smell, Coloboma	ORPHA:91412
Radial Ray Hypoplasia With Choanal Atresia	Choanal stenosis, Depressed nasal bridge, Choanal atresia	OMIM:179270
Rere-Related Neurodevelopmental Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Optic atrophy, Astigmatism, Chor...	ORPHA:494344
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth...	OMIM:147250
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsor...	ORPHA:92050
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, High, narro...	OMIM:604841
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Microform Holoprosencephaly	Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Asthma, Cleft palate, ...	ORPHA:280200
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Optic atroph...	OMIM:615042
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Recurrent upper respiratory tract infections, Respirat...	OMIM:263000
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Choanal atresia, Corneal erosion, Optic disc coloboma, Cleft palate, Rect...	OMIM:270420
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, ...	ORPHA:1555
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior	OMIM:239500
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia	OMIM:238700
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex...	ORPHA:87
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Optic atrophy, Retrognathia, Short nose, Br...	ORPHA:561
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Cataract, Depressed nasal bridge, Choanal atresia, Prominent nose, Patent d...	OMIM:300968
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Blepharocheilodontic Syndrome 1	Neural tube defect, Choanal atresia, Anal atresia	OMIM:119580
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Micrognathia, Mandibular condyle aplasia, Temporomandibular joint an...	OMIM:614669
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia	OMIM:612247
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Choanal atresia	OMIM:613970
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Prominent...	OMIM:300166
Gapo Syndrome	Keratoconus, Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Prematurely aged...	ORPHA:2067
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Pro...	OMIM:123790
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Norrie Disease	Narrow nasal bridge, Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Catarac...	ORPHA:649
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency, Cleft palate	ORPHA:2901
Holoprosencephaly 2	Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Pr...	OMIM:157170
Stickler Syndrome Type 1	Retinal detachment, Cataract, Hypoplasia of the maxilla, Abnormal vitreous humor morphology, Clef...	ORPHA:90653
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Bardet-Biedl Syndrome 16	Respiratory distress, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Hypoplasia of the maxilla, Patent ductus arteriosus, Wide nasal bridge, Cle...	OMIM:106260
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, High p...	OMIM:101600
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Fg Syndrome Type 1	Choanal atresia, Facial wrinkling, Prominent nose, Malrotation of colon, Abnormal large intestine...	ORPHA:93932
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Cleft ...	OMIM:610536
Pfeiffer Syndrome Type 2	Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft pala...	ORPHA:93259
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Ramos-Arroyo Syndrome	Respiratory distress, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Keratitis,...	ORPHA:1051
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Iri...	ORPHA:861
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy	OMIM:614284
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Esophageal Atresia	Respiratory distress, Cyanosis, Barrett esophagus, Choanal atresia, Intestinal malrotation, Pylor...	ORPHA:1199
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Osteoglosphonic Dysplasia	Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Multiple unerupted teeth	ORPHA:2645
Sweeney-Cox Syndrome	Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Patent ductus arterios...	OMIM:617746
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Death in infancy, Depressed nasal bridge, Patent...	ORPHA:166272
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Patent ductus ar...	OMIM:608799
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Sho...	OMIM:619539
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Choanal stenosis, Bifid uvula, Iris coloboma, Depressed nasal bridg...	OMIM:620186
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Posterior subcapsular cat...	ORPHA:637
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Cataract, Choanal atresia, Spina bifida, ...	ORPHA:3380
Pfeiffer Syndrome Type 3	Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft pala...	ORPHA:93260
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Choanal atresia, Micrognathia, Pyloric stenosis, Patent...	OMIM:619148
Acrocraniofacial Dysostosis	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Cleft palate, Advanced e...	ORPHA:949
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Convex nasal ridge	OMIM:619793
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Johnson Neuroectodermal Syndrome	Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate	ORPHA:2316
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response...	OMIM:245590
Holoprosencephaly	Depressed nasal ridge, Absent nares, Chorioretinal coloboma, Iris coloboma, Encephalocele, Aplasi...	ORPHA:2162
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Cleft palate, Restrictive ventilatory defect, Re...	OMIM:614399
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Chromosome 9P Deletion Syndrome	Anteverted nares, Choanal atresia, Depressed nasal bridge, Micrognathia, High, narrow palate, Pat...	OMIM:158170
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Cataract, Anal stenosis, Choanal atresia, Aganglionic megacolon,...	OMIM:607323
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Cutis marmorata, Choanal atresia, Depressed nasal bridge, Anteverted n...	OMIM:122470
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi...	OMIM:619227
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High pal...	OMIM:602535
Mmep Syndrome	Microphthalmia	ORPHA:3434
Bosma Arhinia Microphthalmia Syndrome	Cataract, Choanal atresia, Cryptorchidism, Anosmia, Dental malocclusion, Cleft palate, Hypoplasia...	OMIM:603457
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H...	OMIM:619080
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections...	ORPHA:60032
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Corneal astigmatism, Episodic respira...	ORPHA:141083
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl...	ORPHA:2257
Raine Syndrome	Mandibular prognathia, Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Pr...	OMIM:259775
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Short nose	ORPHA:83
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Choanal atresia, Proboscis, Optic n...	ORPHA:141099
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1	Absent nipple, Choanal atresia	OMIM:113700
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Wide nose, Abnormal retinal morphology, Wide nasal bridge	ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Diamond-Blackfan Anemia 10	Respiratory distress, Choanal atresia, Micrognathia, Patent ductus arteriosus, Cleft palate	OMIM:613309
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Malaria	Respiratory distress, Retinopathy	ORPHA:673
Methimazole Embryofetopathy	Esophageal atresia, Tracheoesophageal fistula, Choanal atresia	ORPHA:1923
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph...	OMIM:261600
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia involving the nose, Microglossia, Absent nares, Mandibul...	ORPHA:990
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Decre...	OMIM:146510
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Choanal atresia, Reduced forced expiratory volume in one second, Convex nasal ridge, Chronic lung...	OMIM:613385
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,...	OMIM:616462
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Nasal congestion, Tracheomalacia, Chron...	ORPHA:137914
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Autosomal Dominant Popliteal Pterygium Syndrome	Choanal atresia, Micrognathia, Cryptorchidism, Fibrous syngnathia, Cleft palate, Popliteal pterygium	ORPHA:1300
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Super...	ORPHA:2108
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Bulbou...	OMIM:616975
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Prominent scalp veins, Lacrimal duct stenosis, Cutis marmorata, Choanal at...	OMIM:151050
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Sinusitis, Choanal atresia, Micrognathia, Long nose, ...	OMIM:251260
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Opitz-Kaveggia Syndrome	Anal stenosis, Choanal atresia, Facial wrinkling, Prominent nose, Intestinal malrotation, Pyloric...	OMIM:305450
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t...	OMIM:613717
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Depressed nasal bridge, A...	OMIM:166250
Autosomal Recessive Stickler Syndrome	Retinal detachment, Cataract, Micrognathia, Cleft palate, Astigmatism, Vitreoretinopathy	ORPHA:250984
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Optic atrophy	ORPHA:26792
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge, Macroglossia, Prolonged neonatal jaundice, Umbilica...	ORPHA:226313
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Chorioretinal dystrophy, Micrognathia, High, narrow palate, Dyspnea, Optic ...	ORPHA:2707
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala...	ORPHA:254864
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy...	ORPHA:264675
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Anteverted nares, Optic atrophy, Wide nasal bridge, Hi...	OMIM:619383
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Hypoplastic ...	ORPHA:3304
Smith-Lemli-Opitz Syndrome	Cataract, Cutis marmorata, Choanal atresia, Sclerocornea, Anteverted nares, Aganglionic megacolon...	ORPHA:818
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Hypoparathyroidism, Abnormal dental enamel morphology, Sp...	ORPHA:567
Rodrigues Blindness	Narrow nasal bridge, Sclerocornea, Nasal flaring, Microcornea, Ectodermal dysplasia	OMIM:268320
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Upper airway obstruction, Depressed nasal bridge, Choanal stenosis, Choanal atresia	OMIM:207410
Kniest Dysplasia	Respiratory distress, Retinal detachment, Cataract, Depressed nasal bridge, Cleft palate, Tracheo...	OMIM:156550
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Bulbous nose, Wide nasal bridge, Micrognathia	ORPHA:261304
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Anal stenosis, Lacrimal duct stenosis, Choanal atresia, Absence ...	OMIM:604292
Diamond-Blackfan Anemia 7	Esophagitis, Patent ductus arteriosus, Choanal atresia, Cleft palate	OMIM:612562
Marshall Syndrome	Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Ectopia lentis, Micrognat...	ORPHA:560
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Mandibular...	OMIM:202650
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Choanal stenosis, Choanal atresia, Micrognathia	OMIM:156400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Depressed nasal bridge, Carious teeth, Retinal pigment epithelial mottling,...	OMIM:617102
Postaxial Acrofacial Dysostosis	Choanal atresia, Supernumerary nipple, Micrognathia, Midgut malrotation, Pyloric stenosis, Crypto...	OMIM:263750
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Micrognathia	OMIM:300934
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Esopha...	OMIM:101200
Chitayat Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella, Tracheomalacia	OMIM:617180
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Tetrasomy 5P	Respiratory distress, Cyanosis, Anteverted nares, Micrognathia, Wide nasal bridge, High palate, P...	ORPHA:3309
Limb Body Wall Complex	Encephalocele, Corneal opacity, Depressed nasal bridge, Spina bifida, Choanal atresia, Myelomenin...	ORPHA:2369
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Depressed nasal bridge, Choanal atresia, Hiatus hernia, Pancreatic cysts, Developmental glaucoma,...	OMIM:610199
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat...	ORPHA:314655
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Micrognathia	ORPHA:1423
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Ca...	ORPHA:2363
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Depressed nasal bridge, High palate, Inspiratory stridor,...	OMIM:604377
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele, Cleft palate	ORPHA:66637
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, High, narr...	ORPHA:261330
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Decreased response to ...	OMIM:129900
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Optic atrophy, Death in childhood	OMIM:615597
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, Co...	ORPHA:3392
Achondrogenesis Type 2	Retinal detachment, Cataract, Abnormal vitreous humor morphology, Cardiorespiratory arrest, Lens ...	ORPHA:93296
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Succinic Acidemia	Respiratory distress	OMIM:600335
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Depressed nasal bridge, Intestinal malrotation, Submucous cleft har...	ORPHA:3426
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior	OMIM:612716
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Cyanotic episode, Micrognathia	ORPHA:284417
Eec Syndrome	Choanal atresia, Abnormal dental enamel morphology, Decreased response to growth hormone stimulat...	ORPHA:1896
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Restrictive Dermopathy 1	Natal tooth, Prominent superficial blood vessels, Depressed nasal bridge, Choanal atresia, Narrow...	OMIM:275210
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Exudative retinopathy, Abnormal vitreous humor morphology, Exudative vitreore...	ORPHA:2788
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Microglossia	OMIM:612776
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Patent ductus art...	ORPHA:163979
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Depressed nasal bridge, Jaundice, Developmental cataract, Neonatal death, H...	OMIM:231680
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Micrognathia, Optic atrophy, Dental malocclusion, High palate, Short nose	ORPHA:329178
Intermediate Uveitis	Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Macular edema, Optic neuriti...	ORPHA:279914
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, High...	OMIM:300219
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Moebius Syndrome	Decreased testicular size, Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal...	OMIM:157900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Abnormal intestine morphology, Choanal atresia, Chronic lung disease	ORPHA:228426
Breath-Holding Spells	Cyanosis	OMIM:607578
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Cataract, Respiratory distress	ORPHA:544503
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Orofaciodigital Syndrome Type 4	Decreased testicular size, Wide nose, Monorchism, Choanal atresia, Micrognathia, High, narrow pal...	ORPHA:2753
Orofaciodigital Syndrome Type 1	Choanal atresia, Hamartoma of tongue, Underdeveloped nasal alae, Micrognathia, Abnormal dental en...	ORPHA:2750
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia	ORPHA:596
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Coug...	ORPHA:142
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Retinal thinning, Asteroid hyalosis	OMIM:132450
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Folinic Acid-Responsive Seizures	Respiratory distress, Optic atrophy, Apnea	ORPHA:79097
Congenital Myasthenic Syndrome	Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic...	ORPHA:98914
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Charge Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Abnormal soft palate morpholo...	ORPHA:138
Knobloch Syndrome	Occipital encephalocele, Retinal detachment, Cataract, Depressed nasal bridge, Ectopia lentis, Py...	ORPHA:1571
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Respira...	ORPHA:3015
Stickler Syndrome, Type I	Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous c...	OMIM:108300
Hsd10 Disease, Infantile Type	Rod-cone dystrophy, Cyanosis, Optic atrophy, Retinal degeneration	ORPHA:391428
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cataract, Depressed nasal bridge, Choanal atresia, Prominent nose, Cyst of ...	ORPHA:480880
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Depressed nasal bridge, Choanal atresia, Elevated circulating luteinizing ho...	ORPHA:95699
Fanconi Anemia	Cataract, Aganglionic megacolon, Choanal atresia, Spina bifida, Micrognathia, Aplasia/Hypoplasia ...	ORPHA:84
Cofs Syndrome	Microphthalmia	ORPHA:1466
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Apnea, Choanal atresia, Micrognathia, Protruding tongue, Aspiration	ORPHA:98889
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Developmental cataract, Volvulus, Bruising susceptibility, De...	ORPHA:335
Congenital Heart Block	Pleural effusion, Patent ductus arteriosus, Cyanosis, Crackles	ORPHA:60041
Aspergillosis	Chronic lung disease, Sinusitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruc...	ORPHA:1163
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Mi...	OMIM:217980
Treacher Collins Syndrome 1	Lacrimal duct stenosis, Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Cleft p...	OMIM:154500
Craniofacioskeletal Syndrome	Absent gallbladder, Choanal atresia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Clef...	OMIM:300712
Meier-Gorlin Syndrome 7	Anal stenosis, Choanal atresia, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly place...	OMIM:617063
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	ORPHA:1143
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Inspiratory stridor	OMIM:207950
Tetraamelia Syndrome 1	Cataract, Choanal atresia, Micrognathia, Single naris, Cleft palate, Adrenal gland agenesis, Anal...	OMIM:273395
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, High palate	OMIM:620011
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal br...	ORPHA:438216
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Encephalopathy, Ethylmalonic	Abnormal retinal vascular morphology, Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Cleft pa...	ORPHA:261112
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Prematurely aged appearance, Choanal atresia, Abnormal dental enamel morph...	ORPHA:2658
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Isolated Atp Synthase Deficiency	Respiratory distress, Rod-cone dystrophy, Cataract, Optic atrophy	ORPHA:254913
Cerebrofacioarticular Syndrome	Anal stenosis, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Wide ...	ORPHA:314679
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Wide nose, Patent ductus arteriosus, Recurrent pneumonia, Optic atrophy, Wi...	OMIM:617303
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Vitritis, Retinal dysp...	ORPHA:2556
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Cyanosis, Anteverted nares, Micrognathia, Pneumothora...	OMIM:619879
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Optic atrophy, Apnea	OMIM:261680
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Tarp Syndrome	Cyanosis, Anteverted nares, Apnea, Micrognathia, Cryptorchidism, Optic atrophy, Wide nasal bridge...	ORPHA:2886
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Gaucher Disease, Perinatal Lethal	Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Micrognathia, Neonatal dea...	OMIM:608013
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Optic atrophy	ORPHA:370924
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Retinal detachment, Wide nose, Cryptorchidism, Patent ductus arteriosus, Re...	OMIM:607143
Waardenburg Syndrome Type 3	Narrow nasal bridge, Acrocyanosis, Tracheomalacia	ORPHA:896
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea...	OMIM:211530
Congenital Diaphragmatic Hernia	Hypoxemia, Intestinal malrotation, Respiratory distress	ORPHA:2140
Diaphanospondylodysostosis	Respiratory distress, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, ...	OMIM:608022
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary...	OMIM:220110
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Retinal detachment, Cleft palate, Cervical myelopathy, Restrictive ventilat...	OMIM:183900
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis...	ORPHA:209959
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Depressed nasal bridge, Respiratory failure, Neonatal death,...	OMIM:616482
Antiphospholipid Syndrome, Familial	Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion	OMIM:107320
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Prominent nose	OMIM:614407
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Hamartoma of tongue, Micrognath...	ORPHA:137888
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Pneumonia, Cryptorchidism, Acrocyanosis, Decreased testicular size	ORPHA:1867
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Goiter	ORPHA:97285
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl...	OMIM:615512
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Cryptorchidism, High palate, Respiratory insufficiency	ORPHA:1145
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Depressed nasal bridge, Pyloric stenosis, Pate...	ORPHA:363705
Cornelia De Lange Syndrome	Delayed eruption of teeth, Cataract, Anteverted nares, Cutis marmorata, Choanal atresia, Depresse...	ORPHA:199
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Optic atrophy	ORPHA:289916
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Respiratory distress, Anteverted nares, Iris hypopigmentation, Decreased res...	ORPHA:177907
Mogs-Cdg	Respiratory distress, Hypoventilation, Wide nose, Apnea, Optic atrophy, Hydrocele testis, High pa...	ORPHA:79330
Tricuspid Atresia	Cyanosis	ORPHA:1209
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Cutis marmorata, Choanal atresia, Depressed nasal bridge, Broad nasal ...	OMIM:135900
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A...	ORPHA:93958
Slc35A1-Cdg	Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage	ORPHA:238459
Pierpont Syndrome	Microphthalmia	OMIM:602342
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Depressed nasal bridge, Rhegmatogen...	ORPHA:485
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Anteverted nares, High, narrow palate, Patent ductus arteriosus, Submucous ...	OMIM:612863
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm...	ORPHA:90051
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Micrognathia, Aplasia/Hypopl...	ORPHA:1662
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Cataract, Micrognathia, Trismus, Bulbous nose, Recurrent pneumonia, Zonular...	OMIM:616271
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Optic atrophy	ORPHA:79312
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Depressed nasal bridge	OMIM:617895
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Abnormal soft palate morphology, Dyspnea, Limbal edema, U...	ORPHA:100050
Farber Disease	Respiratory distress, Corneal opacity, Recurrent upper respiratory tract infections, Respiratory ...	ORPHA:333
Charge Syndrome	Hypoparathyroidism, Anal stenosis, Cataract, Choanal atresia, Decreased response to growth hormon...	OMIM:214800
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Pitt-Hopkins Syndrome	Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Supernumerary nip...	ORPHA:2896
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Pallister-Hall Syndrome	Depressed nasal ridge, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Anteverted nares,...	ORPHA:672
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Cataract, Testicular atrophy	OMIM:160900
Lissencephaly 8	Microphthalmia	OMIM:617255
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Ethylmalonic Encephalopathy	Retinal vascular tortuosity, Acrocyanosis, Petechiae	ORPHA:51188
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Nasal polyposis, Cutis marmorata, Sinusitis, Malabsorption, Asthma, Respi...	ORPHA:183
Joubert Syndrome 22	Microphthalmia	OMIM:615665
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Repeated pneumothoraces, Microgna...	ORPHA:536467
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Cleft palate, Short nose, Retrognathia, Narrow nose	OMIM:301044
Temtamy Syndrome	Microphthalmia	ORPHA:1777
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Midgut malrotation, Cleft pal...	ORPHA:2326
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Patent ductu...	OMIM:618188
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Underdeveloped nasal alae, Micrognathia, Supernumerary tooth, Concave nasal ridge, Bil...	OMIM:619525
Odontochondrodysplasia 1	Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Respiratory distress	OMIM:184260
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Occipital encephalocele, Retinal detachment, Optic disc pal...	OMIM:267750
Buerger Disease	Acrocyanosis	ORPHA:36258
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Choanal atresia, Aganglionic megacolon, Abnormal dental enamel morphology, Kerat...	ORPHA:2273
Arterial Tortuosity Syndrome	Keratoconus, Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatu...	ORPHA:3342
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasi...	OMIM:305100
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Short nose, Respiratory distress	ORPHA:50810
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Patent ductus arteriosus, Cyanosis, Tachypnea	ORPHA:860
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Corneal dystrophy, Hypoplasia of the maxilla, High, narrow palate, Cryptor...	ORPHA:1101
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Histiocytoid Cardiomyopathy	Cyanosis, Corneal opacity, Tachypnea, Optic atrophy, Cleft palate, Polycystic ovaries, Cough, Meg...	ORPHA:137675
Marshall Syndrome	Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Lens luxation, Micrognath...	OMIM:154780
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Abnormality of retinal pigmentation, Patent ductus arteriosus, Optic atroph...	ORPHA:505248
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Bifid uvula, Cleft palate, Micrognathia	OMIM:606164
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Depressed nasal bridge	OMIM:151210
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Resp...	ORPHA:98915
Biotinidase Deficiency	Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Conjunctivitis, Hyperve...	ORPHA:79241
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Protruding tongue	OMIM:619580
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Oral leukoplakia, Respiratory distress	ORPHA:2309
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Keratoconjunctivitis	ORPHA:79242
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Patent ductus art...	ORPHA:141127
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Respiratory distress, Death in infancy, Respiratory failure, High palate, ...	OMIM:620278
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Knobloch Syndrome 2	Encephalocele, Retinal detachment, Anterior cortical cataract, Micrognathia, Vitreous floaters, P...	OMIM:618458
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Rubinstein-Taybi Syndrome 1	Respiratory distress, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxill...	OMIM:180849
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifida, Esophage...	OMIM:192350
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Macular coloboma, Pulmonary embolism, Jaundice, Optic atrophy, Pigmentary r...	ORPHA:79282
Achondroplasia	Respiratory distress, Death in infancy, Depressed nasal bridge, Upper airway obstruction, Choanal...	OMIM:100800
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Adnp Syndrome	Respiratory distress, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract i...	ORPHA:404448
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Respiratory distress, Neonatal respiratory distress, La...	OMIM:616268
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Esophageal varix, Respiratory insufficiency	ORPHA:367
Tetanus	Respiratory distress, Trismus, Tachypnea	ORPHA:3299
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Corneal opacity, Narrow...	ORPHA:740
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis,...	ORPHA:31826
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cataract, Apnea, Cyanosis, Macroglossia, Pleural effusion	OMIM:261740
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, High palate	OMIM:619272
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Choanal atresia, Cryptorchidism, Tracheoesophageal fistula,...	OMIM:107480
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Micrognathia, Wide nasal bridge, Pleural effusion, High palate, Short nose,...	OMIM:620369
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Delayed eruption of ...	OMIM:119600
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchidis...	ORPHA:2554
Mgat2-Cdg	Respiratory distress, Patent ductus arteriosus, Hypoplastic nipples, Recurrent upper and lower re...	ORPHA:79329
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency...	OMIM:252010
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Patent d...	ORPHA:210122
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Erythema, Vitritis, Retinal hemorrh...	ORPHA:79098
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorly placed anus	ORPHA:26793
Cryptococcosis	Respiratory distress, Abnormal retinal morphology, Pneumonia, Dyspnea, Vitritis, Abnormal optic n...	ORPHA:1546
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Pulmonary a...	ORPHA:2519
Multiple Epiphyseal Dysplasia, Beighton Type	Retinal thinning, Cataract, Asteroid hyalosis	ORPHA:166011
Usher Syndrome, Type Ig	Rod-cone dystrophy, Hypoplasia of the nasal bone	OMIM:606943
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Depressed nasal bridge, Anteverted nares, Decreased response to growth...	ORPHA:293987
Myasthenic Syndrome, Congenital, 21, Presynaptic	Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus	OMIM:617239
Osteogenesis Imperfecta, Type X	Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Death in childhood, De...	OMIM:613848
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Elevated circulating luteinizing hormone level	OMIM:250790
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Doors Syndrome	Respiratory distress, Cataract, Anteverted nares, Adrenal hyperplasia, Broad nasal tip, Bulbous n...	ORPHA:79500
Infantile Krabbe Disease	Respiratory distress, Cherry red spot of the macula, Respiratory failure, Optic atrophy	ORPHA:206436
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Chorioretinal lacunae, Aspiration, Retinal pigment epithelial mottling	OMIM:618733
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Toxic Epidermal Necrolysis	Respiratory distress, Malabsorption, Intestinal perforation, Corneal erosion, Erythema, Tracheoes...	ORPHA:537
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Stickler Syndrome	Retinal detachment, Cataract, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel mo...	ORPHA:828
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Restrictive ventilatory defect, Oral leukoplakia	OMIM:619767
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, High palate	OMIM:271225
Aicardi-Goutieres Syndrome 1	Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Poems Syndrome	Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu...	ORPHA:2905
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Pneumonia...	ORPHA:95455
Dyskeratosis Congenita, Autosomal Dominant 3	Cryptorchidism, Premature graying of hair, Exudative retinopathy, Decreased DLCO, Oral leukoplakia	OMIM:613990
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Apnea, Spina bifida,...	OMIM:114290
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Symblepharon, Carious teeth, Corn...	OMIM:173650
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Nonproductive cough, Patent ductus arteriosus, Dyspnea, Recurrent pneumonia,...	ORPHA:980
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Corneal scarring, Furrowed tongue, Keratoconjunctivitis sicca, Recurrent corneal erosi...	OMIM:148210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Acrocyanosis, Heteroc...	ORPHA:1764
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Monosomy 18P	Microphthalmia	ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Pneum...	ORPHA:31204
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Wide nose, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Polycystic ovaries, Anteriorl...	OMIM:201750
Temtamy Syndrome	Microphthalmia	OMIM:218340
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Oral leukoplakia	OMIM:224230
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:224690
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma	OMIM:180200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Cutis marmorata, Retinal crystals, Optic neuropathy, Optic atrophy,...	OMIM:259900
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Dyspnea, Hepatic necrosis, Premature graying of hair, Interstitial pneumonitis, Or...	OMIM:127550
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Respiratory distress, Streak ovary, Aganglionic megacolon, Broad nasal...	ORPHA:798
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Neonatal respiratory distress, Respiratory distress, Asth...	ORPHA:209905
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Corneal scarring, Hepatocellular necrosis, Recurrent corneal eros...	OMIM:256810
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Cutis marmorata, Anteverted nares, Rectal prolapse, Dental malo...	OMIM:303600
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Trismus, Erythema, Xerostomia, Keratoconjunctivitis, Urticaria, Opaci...	ORPHA:2907
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Underdeveloped nasal alae, Micrognathia, Pyloric stenosis, Biliary hyperpla...	ORPHA:83617
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Fucosidosis	Acrocyanosis, Corneal opacity, Vascular skin abnormality	ORPHA:349
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Asthma, Nasal flaring, Wide nasal bridge, ...	ORPHA:466943
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Decreased sensitivity to hypoxemia, Corneal ulceration, Recurrent corneal erosions	OMIM:223900
Primary Hyperoxaluria	Optic disc pallor, Cutis marmorata, Choroidal neovascularization, Optic atrophy, Abnormal dental ...	ORPHA:416
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis	ORPHA:268943
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Leptospirosis	Respiratory distress, Papilledema, Jaundice, Retinal hemorrhage, Chorioretinitis, Pleural effusio...	ORPHA:509
Dyskeratosis Congenita	Neoplasm of the pancreas, Cataract, Telangiectasia of the skin, Esophageal stenosis, Malabsorptio...	ORPHA:1775
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Renal tubular epith...	ORPHA:79404
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Dyspnea, Angioedema, As...	ORPHA:3260
Double Outlet Left Ventricle	Cryptorchidism, Patent ductus arteriosus, Cyanosis, Tachypnea	ORPHA:3427
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Cocaine Intoxication	Respiratory distress, Intestinal perforation, Hyperventilation, Wheezing, Tachypnea, Pneumothorax...	ORPHA:90068
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Mydriasis, Aspiration, Flushing	ORPHA:2131
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Optic atrophy, Premature graying of hair, Exudative retinopathy, Intestin...	OMIM:612199
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Cataract, Carious teeth, Cryptorchidism, Esophageal stricture, Optic a...	OMIM:305000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon...	ORPHA:37042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
8Q24.3 Microdeletion Syndrome	Branchial cyst, Microretrognathia, Ectopic posterior pituitary, Respiratory distress, Anteverted ...	ORPHA:508488
Revesz Syndrome	Oral leukoplakia, Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Pigmentary retinopathy, Rod-cone dy...	ORPHA:255210
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Posteriorly placed anus, Patent ductus arteriosus, Myelomeningoce...	OMIM:306955
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Aortic Arch Interruption	Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Exertional dyspnea	ORPHA:2299
Refsum Disease	Microphthalmia	ORPHA:773
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae	OMIM:620133
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Oral leukoplakia	OMIM:616353
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Anteverted nares, Corneal ulceration, Corneal opacity	OMIM:615273
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Neonatal respiratory distress, Respiratory distress, Steatorrhea	OMIM:260400
Tylosis With Esophageal Cancer	Esophageal carcinoma, Oral leukoplakia	OMIM:148500
Dyskeratosis, Hereditary Benign Intraepithelial	Oral leukoplakia	OMIM:127600
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Prominent nose, Erythema, Respiratory acidos...	OMIM:614748
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Conjunctivitis	ORPHA:533
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Oral leukoplakia	OMIM:615735
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Tuberous Sclerosis Complex	Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Pituitary adenoma, Parathy...	ORPHA:805
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Excessive wrinkled skin, Oral leukoplakia	ORPHA:3322
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Patent ductus arteriosus, Cyanosis, Exertional dyspnea	ORPHA:99050
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Q Fever	Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura	ORPHA:781
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Dyskeratosis Congenita, Autosomal Recessive 3	Oral leukoplakia, Squamous cell carcinoma of the tongue	OMIM:613988
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Pachyonychia Congenita 1	Oral leukoplakia	OMIM:167200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Fragile skin, Telangiectases of the cheeks	OMIM:616295
White Sponge Nevus 1	Oral leukoplakia	OMIM:193900
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Oral leukoplakia	OMIM:613987
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Pachyonychia Congenita 2	Natal tooth, Oral leukoplakia	OMIM:167210
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Depressed nasal bridge, Supernumerary tooth, Patent ductus arteriosus, Apla...	OMIM:617088
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Micro Syndrome	Microphthalmia	ORPHA:2510
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Patent ductus arteriosus...	ORPHA:97214
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation	OMIM:616749
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Coccidioidomycosis	Respiratory distress, Pneumonia, Abnormal retinal morphology, Pleural empyema, Cough, Exudative p...	ORPHA:228123
Bone Marrow Failure Syndrome 5	Testicular atrophy, Oral leukoplakia	OMIM:618165
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Patent ductus arteriosus, Apnea	ORPHA:17
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia	OMIM:616553
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Dyskeratosis Congenita, Autosomal Dominant 2	Premature graying of hair, Esophageal stricture, Oral leukoplakia	OMIM:613989
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat...	ORPHA:287
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Trismus, Asthma, Smooth tongue, Ectopic thyroid	ORPHA:3206
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Aicardi-Goutières Syndrome	Cutis marmorata, Developmental glaucoma, Prolonged neonatal jaundice, Acrocyanosis, Convex nasal ...	ORPHA:51
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Ulbright-Hodes Syndrome	Respiratory distress, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pneumothorax, Respira...	ORPHA:3404
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Choroidal neovascularization, Abnormal retinal artery morphology,...	ORPHA:51608
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Scimitar Syndrome	Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension	ORPHA:185
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Frontorhiny	Microphthalmia	ORPHA:391474
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Retinal vasculitis, Vasculitis in the ski...	ORPHA:48435
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Cohen Syndrome	Microphthalmia	ORPHA:193
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Dermatomyositis	Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A...	ORPHA:221
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hypoplasia of the nasal bone	OMIM:118650
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Fryns Syndrome	Microphthalmia	ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Cataract, Anteverted nares, Prominent nasal bridge, ...	ORPHA:79318
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Patent ductus...	ORPHA:99125
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Patent ductus arteriosus, Aplasia/Hypoplasia of the...	ORPHA:2255
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Truncus Arteriosus	Tachypnea, Patent ductus arteriosus, Cyanosis, Hypoplasia of the thymus	ORPHA:3384
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Cousin Syndrome	Microphthalmia	OMIM:260660
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Plague	Respiratory distress, Enterocolitis, Acute infectious pneumonia, Inflammation of the large intest...	ORPHA:707
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Dyskeratosis Congenita, Digenic	Decreased testicular size, Oral leukoplakia	OMIM:620040
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Apnea, Malabsorption, Keratoconjunctivitis sicca, Umbilical hernia, Acrocyanosis	ORPHA:285
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Familial Mediterranean Fever	Intestinal obstruction, Malabsorption, Orchitis, Erythema, Oral leukoplakia	ORPHA:342
Gitelman Syndrome	Parathyroid adenoma, Neoplasm of the pancreas, Respiratory distress	ORPHA:358
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Alström Syndrome	Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati...	ORPHA:64
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Aicardi Syndrome	Microphthalmia	OMIM:304050
Mend Syndrome	Microphthalmia	ORPHA:401973
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries	Patent ductus arteriosus, Cyanosis	ORPHA:216694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Fryns Syndrome	Microphthalmia	OMIM:229850
Myhre Syndrome	Microphthalmia	OMIM:139210
Roberts Syndrome	Microphthalmia	ORPHA:3103
Cockayne Syndrome	Microphthalmia	ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Pachyonychia Congenita 3	Oral leukoplakia, Furrowed tongue	OMIM:615726
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Degcags Syndrome	Microphthalmia	OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Retrognathia, Recurrent pneumonia, Developmental cataract	ORPHA:99646
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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 Aldh1a3

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 Aldh1a3.

No publications found that use IMPC mice or data for Aldh1a3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Aldh1a3^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Aldh1a3^{tm357331(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Aldh1a3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aldh1a3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Aldh1a3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Aldh1a3^{tm1a(KOMP)Wtsi}	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: Aldh1a3 MGI:1861722

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

MicroCT E14.5-E15.5

Adult LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Aldh1a3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data