Gene Summary

Name:
aldehyde dehydrogenase family 1, subfamily A3
Synonyms:
retinaldehyde dehydrogenase 3,  ALDH6,  RALDH3,  V1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Aldh1a3tm1b(KOMP)Wtsi HOM   Early adult 0.00
microphthalmia Aldh1a3tm1b(KOMP)Wtsi HOM E15.5 0.00
increased circulating alkaline phosphatase level Aldh1a3tm1b(KOMP)Wtsi HET Early adult 6.51×10-05
hyperactivity Aldh1a3tm1b(KOMP)Wtsi HET Early adult 4.28×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.63% (3 of 475)
aorta 0.21% (1 of 479)
brain 0.84% (4 of 477)
brainstem 0.42% (2 of 475)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.42% (2 of 477)
cerebral cortex 0.21% (1 of 479)
epididymis 12.93% (15 of 116)
esophagus 1.77% (6 of 339)
eye 0.0%
heart 0.43% (2 of 461)
hippocampus 0.61% (3 of 488)
hypothalamus 0.41% (2 of 482)
kidney 3.25% (15 of 462)
large intestine 1.87% (9 of 481)
liver 0.0%
lower urinary tract 0.21% (1 of 483)
lung 0.21% (1 of 472)
lymph node 0.21% (1 of 470)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.21% (1 of 466)
ovary 0.21% (1 of 478)
oviduct 0.0%
pancreas 1.06% (5 of 470)
peripheral nervous system 0.21% (1 of 478)
peyers patch 0.0%
pituitary gland 0.21% (1 of 485)
prostate gland 2.29% (11 of 481)
skeletal muscle 0.0%
skin 0.0%
small intestine 1.46% (7 of 480)
spinal cord 0.44% (2 of 457)
spleen 0.64% (3 of 466)
stomach 2.06% (10 of 485)
striatum 0.65% (3 of 465)
submandibular gland 0.92% (1 of 109)
testis 1.29% (6 of 465)
thalamus 0.0%
thymus 0.21% (1 of 466)
thyroid gland 3.13% (15 of 479)
trachea 0.64% (3 of 466)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
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 1.53% (4 of 261)
dorsal root ganglion 2.86% (1 of 35)
ear 0.39% (1 of 259)
embryo 0.37% (1 of 269)
eye 0.38% (1 of 264)
footplate 0.38% (1 of 266)
forebrain 0.0%
forelimb 0.0%
fronto-nasal process 0.0%
handplate 0.35% (1 of 284)
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.36% (1 of 274)
mandibular process 0.4% (1 of 250)
maxillary process 0.35% (1 of 286)
midbrain 0.36% (1 of 278)
nose 2.13% (1 of 47)
oral cavity 0.36% (1 of 279)
skin 0.0%
spinal cord 2.63% (1 of 38)
tail 0.0%
tail somite group 0.37% (1 of 267)

Associated Images

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

Adult LacZ

LacZ Images Section

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

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

8 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.

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, Optic nerve hypoplasia OMIM:615113

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
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
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dy... ORPHA:231736
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Immunodeficiency 8
Hyperactivity OMIM:615401
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Treacher Collins Syndrome 2
Choanal stenosis, Micrognathia, Choanal atresia, Coloboma, Cleft palate OMIM:613717
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
Perching Syndrome
Rod-cone dystrophy, Depressed nasal bridge, Respiratory distress, High palate OMIM:617055
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Cataract, Choanal atresia, Macroglossia, Depressed nasal bridge, Respiratory in... ORPHA:1914
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Burn-Mckeown Syndrome
Abnormal palate morphology, Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge,... ORPHA:1200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment OMIM:613310
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Gombo Syndrome
Microphthalmia OMIM:233270
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Bilateral ... OMIM:608572
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Respiratory failure, Micrognathia, Dyspnea, Mandibu... ORPHA:1832
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal ridge, Non-midline cleft lip, Microcornea, Cataract, Dimple on nas... ORPHA:1791
Distal Trisomy 18Q
High palate, Cryptorchidism, Carious teeth, Micrognathia, Choanal atresia, Abnormality of dental ... ORPHA:1716
Crouzon Syndrome
Iris coloboma, Convex nasal ridge, Conjunctivitis, Choanal atresia, Hypoplasia of the maxilla, Re... ORPHA:207
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormal nasal bone morphology, Underdeveloped nasal alae, Wide nasal bridge, Choanal atresia, Fr... ORPHA:521308
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Microglossia, Upper airway obstruction,... ORPHA:141152
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Brushfield spots, Micrognathia, Choanal atresia, Respiratory... ORPHA:1895
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Cleft upper lip, Solitary median maxillary central incisor, ... OMIM:147250
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Supernumerary Nostril
Microcornea, Supernumerary naris, Developmental cataract, Choanal atresia ORPHA:141096
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Respiratory failure, Wide nasal bridge, Abnormality of the phil... ORPHA:2759
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Convex nasal ridge, Choanal atresia, Hypoplasia of the maxilla, Respi... ORPHA:93262
Anophthalmia Plus Syndrome
Non-midline cleft lip, Choanal atresia, Spina bifida, Bilateral cleft lip and palate, Cleft palat... ORPHA:1104
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Cleft upper lip, Cryptorchidism, Tooth agenesis, Choanal atresia, Cleft palate, Hyposmia... OMIM:147950
Oculo-Palato-Cerebral Syndrome
Asthma, Cataract, Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palat... ORPHA:2714
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Bulbous nose, Patent ductus arteriosus, Astigmatism, Choanal atresia, Dep... ORPHA:284169
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of ... ORPHA:1135
Bamforth-Lazarus Syndrome
Cleft palate, Retrognathia, Choanal atresia ORPHA:1226
Microform Holoprosencephaly
Short philtrum, Solitary median maxillary central incisor, Asthma, Panhypopituitarism, Midnasal s... ORPHA:280200
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Falciform reti... OMIM:601813
Nanophthalmos
Microphthalmia ORPHA:35612
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate, Choanal atresia OMIM:241850
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Re... OMIM:614643
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Marcus-Gunn Syndrome
Morning glory anomaly, Choanal atresia, Cleft lip, Abnormality of the sense of smell, Coloboma, C... ORPHA:91412
Microcephaly 10, Primary, Autosomal Recessive
Cataract, Prominent nasal bridge, Micrognathia, Choanal atresia OMIM:615095
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Hypodontia, Anal atresia, Choanal atresia, Neural tube defect OMIM:119580
Choanal Atresia And Lymphedema
High palate, Choanal atresia OMIM:613611
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Depressed nasal ridge, Optic nerve hypoplasia, High, na... OMIM:607597
Lowry-Maclean Syndrome
Developmental glaucoma, Downturned corners of mouth, Corneal opacity, Convex nasal ridge, Microgn... ORPHA:2409
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Choanal atresia, Prominent nasal bridge, Retrognathia, Cle... ORPHA:52055
Radial Ray Hypoplasia With Choanal Atresia
Choanal stenosis, Depressed nasal bridge, Choanal atresia OMIM:179270
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Pierre-Robin sequence, Bifid uvula, Cataract, Retinal detachm... OMIM:604841
Congenital Tufting Enteropathy
Punctate keratitis, Cataract, Abnormal small intestinal mucosa morphology, Anal atresia, Choanal ... ORPHA:92050
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Recurrent pneumonia, Bifid uvula, Patent ductus arteriosus, Choanal atresia, Promine... OMIM:300472
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Congenital Disorder Of Glycosylation, Type Iu
High palate, Thin upper lip vermilion, Micrognathia, Respiratory distress, Neonatal respiratory d... OMIM:615042
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Low hanging columella, Respiratory distress, Mandibular prognathia, Antevert... OMIM:618006
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Cryptorchidism, Iris coloboma, Astigmatism, Micrognathia, Choanal atresia... ORPHA:494344
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Long philtrum, Bulbous nose, Patent ductus arteriosus, Unilateral breast hypoplasia,... OMIM:300968
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Marshall-Smith Syndrome
Bruising susceptibility, Gingival overgrowth, Open mouth, Choanal atresia, Retrognathia, Protrudi... ORPHA:561
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Gapo Syndrome
Abnormal palate morphology, Delayed eruption of teeth, Long philtrum, Prematurely aged appearance... ORPHA:2067
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow mouth, Narrow palate, Cryptorchidism, Tooth agenesis, Choanal atresia, Anteriorly placed a... ORPHA:1555
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Respiratory failure, Tachypnea, Cough, Re... OMIM:263000
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Microphthalmia, Syndromic 2
Broad nasal tip, Developmental cataract, Bifid uvula, Long philtrum, Cryptorchidism, Radiculomega... OMIM:300166
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Intestinal malrotation, Anal atresia, Choanal atresia, Optic disc coloboma,... OMIM:270420
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Hypoplas... ORPHA:861
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Retinal Detachment
Retinal detachment OMIM:180050
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity OMIM:616657
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Fg Syndrome Type 1
Long philtrum, Cryptorchidism, Optic nerve hypoplasia, Micrognathia, Small pituitary gland, High ... ORPHA:93932
Beare-Stevenson Cutis Gyrata Syndrome
Narrow mouth, Narrow palate, Choanal stenosis, Palmoplantar cutis laxa, Choanal atresia, Depresse... OMIM:123790
Osteoglosphonic Dysplasia
Cryptorchidism, Micrognathia, Choanal atresia, Multiple unerupted teeth, Tooth agenesis, Antevert... ORPHA:2645
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Cryptorchidism, Sclerocornea, Catarac... ORPHA:649
Neuroocular Syndrome
Widely spaced teeth, Blue irides, Nasolacrimal duct obstruction, Short uvula, Retrognathia, Micro... OMIM:619539
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Apert Syndrome
Ectopic anus, Bifid uvula, Delayed eruption of teeth, Convex nasal ridge, Esophageal atresia, Cho... ORPHA:87
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration, Respiratory distress OMIM:615993
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Long philtrum, Cataract, Retinal detachment, Hypoplasia of th... ORPHA:90653
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Short philtrum, Delayed eruption of teeth, Patent ductus arteriosus, Cryptorchidism,... OMIM:619148
Neuralgic Amyotrophy
Narrow mouth, Acrocyanosis, Respiratory insufficiency, Cleft palate ORPHA:2901
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia OMIM:612247
Chromosome 9P Deletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent ductus arteriosus, Wide nasal bridge, Micrognath... OMIM:158170
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Ramos-Arroyo Syndrome
Corneal ulceration, Deviated nasal septum, Narrow mouth, Long philtrum, Patent ductus arteriosus,... ORPHA:1051
Pfeiffer Syndrome
High palate, Choanal stenosis, Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge... OMIM:101600
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Mandibulofacial Dysostosis, Guion-Almeida Type
Deep philtrum, Micrognathia, Choanal atresia, Esophageal atresia, Respiratory distress, Anteverte... OMIM:610536
Sweeney-Cox Syndrome
Narrow mouth, High palate, Short philtrum, Underdeveloped nasal alae, Wide nasal bridge, Microgna... OMIM:617746
Raine Syndrome
Narrow mouth, High palate, Gingival overgrowth, Enamel hypoplasia, Choanal stenosis, Microdontia,... OMIM:259775
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Esophageal Atresia
Cyanosis, Restrictive ventilatory defect, Aspiration, Intestinal malrotation, Excessive salivatio... ORPHA:1199
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Abnormality of the optic nerve, Chorioretinal dystrophy,... ORPHA:2707
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Intestinal atresia, Median cleft lip and palate, Hypoplasia o... ORPHA:2162
Odontochondrodysplasia
Delayed eruption of teeth, Patent ductus arteriosus, Depressed nasal bridge, Respiratory distress... ORPHA:166272
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Patent ductus arteriosus, Micrognathia, High, narrow pa... OMIM:608799
Trisomy 18
Narrow mouth, Non-midline cleft lip, Cryptorchidism, Abnormality of retinal pigmentation, Anencep... ORPHA:3380
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Johnson Neuroectodermal Syndrome
Anosmia, Bulbous nose, Carious teeth, Everted lower lip vermilion, Choanal atresia, Cleft palate ORPHA:2316
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Bosma Arhinia Microphthalmia Syndrome
High palate, Anosmia, Cryptorchidism, Cataract, Hypoplasia of teeth, Aplasia of the nose, Choanal... OMIM:603457
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neurofibromatosis Type 2
Abnormality of the optic nerve, Remnants of the hyaloid vascular system, Cortical cataract, Myelo... ORPHA:637
Cornelia De Lange Syndrome 1
Long philtrum, Cryptorchidism, Astigmatism, Widely spaced teeth, Micrognathia, High, narrow palat... OMIM:122470
Pfeiffer Syndrome Type 2
High palate, Tracheomalacia, Intestinal malrotation, Anal atresia, Choanal atresia, Depressed nas... ORPHA:93259
Marshall-Smith Syndrome
Microdontia, Bilateral cryptorchidism, Retrognathia, Short nose, Short mandibular rami, High pala... OMIM:602535
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Acrocraniofacial Dysostosis
Short philtrum, Micrognathia, Choanal atresia, Prominent nasal bridge, Spina bifida occulta, Adva... ORPHA:949
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, High palate, Bulbous nose, Patent ductus arteriosus, Cryptorchidism, Sleep... OMIM:616975
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackl... ORPHA:2302
Proboscis Lateralis
Single naris, Chorioretinal coloboma, High palate, Long philtrum, Patent ductus arteriosus, Micro... ORPHA:141099
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Pfeiffer Syndrome Type 3
High palate, Tracheomalacia, Intestinal malrotation, Anal atresia, Choanal atresia, Depressed nas... ORPHA:93260
Kilquist Syndrome
Intestinal malrotation, Hypoplasia of teeth, Choanal atresia, Midgut malrotation, Mandibular prog... OMIM:619080
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Respiratory failure, Tongue fasciculations, Respirat... OMIM:614399
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Mmep Syndrome
Microphthalmia ORPHA:3434
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Underdeveloped nasal alae, Neonatal death, Fragile skin, Anteverted n... OMIM:612138
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Non-midline cleft lip, Cryptorchidism, Micrognathia, Choanal atresia, Thin u... ORPHA:1300
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Antley-Bixler Syndrome
Narrow mouth, Long philtrum, Choanal atresia, Hypoplasia of the zygomatic bone, Anteverted nares,... ORPHA:83
Opitz-Kaveggia Syndrome
Cleft upper lip, Long philtrum, Anal stenosis, Cryptorchidism, Intestinal malrotation, Thick lowe... OMIM:305450
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus, Micrognathia, Choanal atresia, Hypoplasia of the maxilla, Retrognathia,... OMIM:616462
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Choanal atresia, Submucous cleft hard palate, Spin... OMIM:619227
Duane-Radial Ray Syndrome
Anal stenosis, Choanal stenosis, Iris coloboma, Cataract, Aganglionic megacolon, Optic disc hypop... OMIM:607323
Hallermann-Streiff Syndrome
Narrow mouth, Developmental cataract, Tracheomalacia, Underdeveloped nasal alae, Abnormality of t... ORPHA:2108
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Bulbous nose, Wide nasal bridge, Micrognathia, Respiratory distress, Thin vermili... ORPHA:261304
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Wide nasal bridge, Respiratory insufficiency, Retinal atrophy, Rod-cone dyst... OMIM:610127
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Aplasia/Hypoplasia involving the nose, Mandibular aplasia, Microgloss... ORPHA:990
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Respiratory distress ORPHA:238329
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Rodrigues Blindness
Sclerocornea, Microcornea, Narrow nasal bridge, Ectodermal dysplasia, Nasal flaring, Tooth malpos... OMIM:268320
Congenital Disorder Of Glycosylation, Type Iy
Wide mouth, Widely spaced teeth, Respiratory distress, Micrognathia OMIM:300934
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia OMIM:615113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Absent nipple, Choanal atresia OMIM:113700
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Micrognathia, Choanal atresia, Respiratory distress, Cleft palate OMIM:613309
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Short philtrum, Reduced forced expiratory volume in one second, Convex nasal ridge, Choanal atres... OMIM:613385
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Wide nasal bridge, Microretrognathia, Respiratory distress, Wide nose ORPHA:89844
Marshall Syndrome
Abnormal vitreous humor morphology, High palate, Vitreoretinopathy, Long philtrum, Cataract, Reti... ORPHA:560
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Long philtrum, Pancreatic cysts, Developmental glaucoma, Pancreatic hypoplasia, Ch... OMIM:610199
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Kniest Dysplasia
Tracheomalacia, Cataract, Retinal detachment, Depressed nasal bridge, Respiratory distress, Umbil... OMIM:156550
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Apnea, Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Neonatal re... OMIM:610921
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia, Choanal atresia ORPHA:1923
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Pallister-Hall Syndrome
Cleft upper lip, Patent ductus arteriosus, Cryptorchidism, Panhypopituitarism, Thyroid dysgenesis... OMIM:146510
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Malaria
Retinopathy, Respiratory distress ORPHA:673
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Decreased response to growth hormone st... OMIM:245590
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Depressed nasal bridge, Prolonged neonatal jaundice, Elevated circulating thyroid-s... ORPHA:226313
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Nasolacrimal Duct Cyst
Deviated nasal septum, Chronic irritative conjunctivitis, Abnormal breath sound, Paroxysmal dyspn... ORPHA:141083
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Choanal stenosis, Choanal atresia, Depressed nasal bridge, Upper airway obstruction OMIM:207410
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, O... ORPHA:98913
Metaphyseal Chondrodysplasia, Jansen Type
Choanal stenosis, Micrognathia, Choanal atresia, Hypoparathyroidism, Tooth malposition OMIM:156400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress, Micrognathia OMIM:300580
Chitayat Syndrome
Tracheomalacia, Depressed nasal bridge, Respiratory distress, Short columella, Anteverted nares, ... OMIM:617180
Postaxial Acrofacial Dysostosis
Cleft upper lip, Conical tooth, Cryptorchidism, Supernumerary nipple, Micrognathia, Choanal atres... OMIM:263750
22Q11.2 Deletion Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Spina bifida, Hypoplasia of the thymus, Cleft palate... ORPHA:567
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal respiratory distress, Tachypnea, Respiratory failure, Dyspnea, Pulmonar... OMIM:265120
Lenz-Majewski Hyperostotic Dwarfism
Cutis marmorata, Cryptorchidism, Choanal stenosis, Prominent scalp veins, Lacrimal duct stenosis,... OMIM:151050
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Tachypnea, Mi... ORPHA:2257
Smith-Lemli-Opitz Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Cleft palate, Cutis marmorata, Patent ductus arterio... ORPHA:818
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Swollen lip, Upper airway obstruction, Respiratory distress, Tongue edema ORPHA:100057
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Bifid uvula, Cryptorchidism, Microdontia, Micrognathia, Recurrent corneal ero... ORPHA:2363
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, High palate, Recurrent pneumonia, Deep philtrum, Tented upper lip vermilion, Micrognathia,... ORPHA:314655
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc hypoplasia, Peripheral vitreous opacit... ORPHA:137902
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Pierre-Robin sequence, Cataract, Retinal detachment, Lens sub... ORPHA:93296
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Respiratory distress ORPHA:26792
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Cataract, Retinal detachment, Astigmatism, Micrognathia, Cleft palate ORPHA:250984
Nijmegen Breakage Syndrome
Long nose, Recurrent pneumonia, Sinusitis, Cleft upper lip, Anal stenosis, Micrognathia, Recurren... OMIM:251260
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Upper airway obstruction, Respiratory d... ORPHA:137914
Orofaciodigital Syndrome Type 4
Bifid uvula, Abnormality of the tongue, Micrognathia, High, narrow palate, Retrognathia, Cleft pa... ORPHA:2753
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Micrognathia, Microglossia, Upper airway obstruction, Resp... OMIM:612776
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Orofaciodigital Syndrome Type 1
Accessory oral frenulum, High palate, Broad alveolar ridges, Tongue nodules, Pancreatic cysts, Un... ORPHA:2750
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Anteverted nares, Broad columella, Long philtrum, Wide nasal bridge, Tented upper li... OMIM:619383
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Vitreoretinopathy, Macular edema, Retinoschisis OMIM:268100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Cleft upper lip, Absence of Stensen duct, Cryptorchidism, Carious tee... OMIM:604292
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, High palate, Patent ductus arteriosus, Cryptorchidism, Wide nasal bridge, Micrognathia,... ORPHA:3304
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Broad nasal tip, Cryptorchidism, Microdontia, Blue irides, Decreased response to growth hormone s... OMIM:129900
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Eec Syndrome
Carious teeth, Anterior hypopituitarism, Microdontia, Oral cleft, Choanal atresia, Tooth agenesis... ORPHA:1896
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory failure requiring assisted ventilation, Macroglossia, Respiratory distre... ORPHA:254864
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Intersti... OMIM:610913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Wide nasal bridge, Widely spaced teeth, Depressed nasal bridge, Respiratory distress OMIM:617102
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress, Micrognathia ORPHA:1423
Diamond-Blackfan Anemia 7
Esophagitis, Cleft palate, Patent ductus arteriosus, Choanal atresia OMIM:612562
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Tetrasomy 5P
Cyanosis, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Pulmonary arterial hyperte... ORPHA:3309
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Corneal opacity, Wide nasal bridge, Lens sub... ORPHA:2369
Tularemia
Abnormal nasopharyngeal adenoid morphology, Pneumonia, Pleural effusion, Cough, Oral ulcer, Respi... ORPHA:3392
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, High, narrow palate, Choanal atresia, Branchial fistula,... ORPHA:261330
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Micrognathia, Respiratory distress, Thin upper lip vermilion, Dental ... ORPHA:329178
Meier-Gorlin Syndrome 7
Narrow mouth, High palate, Anal stenosis, Cryptorchidism, Anal atresia, Choanal atresia, Duodenal... OMIM:617063
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Long philtrum, Astigmatism, Thin upper lip vermilion, Wide nasal base, Cleft palate, Tooth malpos... ORPHA:480880
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Cyanosis, Emphysema, Recurrent upper respiratory trac... ORPHA:95430
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short philtrum, Absent gallbladder, Patent ductus arteriosus, Underdeveloped nasal alae, Overhang... ORPHA:163979
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, High palate, Atelectasis, Bilateral cryptorchidism, Respiratory distre... OMIM:300219
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Optic atrophy, Respiratory distress, Death in childhood OMIM:615597
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Hypoxemia, Crackles, Tachypnea, Respiratory failure, Pleural effus... ORPHA:79126
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Mitochondrial Pyruvate Carrier Deficiency
Thin upper lip vermilion, Long philtrum, Respiratory distress OMIM:614741
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Periorbital wrinkles, Underdeveloped nasal alae, Absent nipple, Conical tooth, Abnormal oral muco... OMIM:305100
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Snoring, Micrognathia, Abnormality of the temporomandibular joint, Ham... ORPHA:137888
Apert Syndrome
Ectopic anus, Bifid uvula, Delayed eruption of teeth, Cryptorchidism, Choanal stenosis, Esophagea... OMIM:101200
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Narrow mouth, Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Pleural Mesothelioma
Abnormal respiratory system physiology, Pleural effusion, Cough, Dyspnea, Respiratory distress ORPHA:50251
Anterior Segment Dysgenesis 7
Microphthalmia, Buphthalmos OMIM:269400
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Tracheomalacia, Micrognathia, Mandibular aplasia, Microglossia, Respirato... OMIM:202650
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Tracheomalacia, Patent ductus arteriosus, Cryptorchidism, Micrognathia, De... OMIM:217980
Double Outlet Right Ventricle
Cyanosis, Narrow mouth, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Depressed... ORPHA:3426
Morm Syndrome
Hyperactivity ORPHA:75858
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cataract, Hypodontia, Narrow nasal bridge, Respiratory distress, Short nose ORPHA:544503
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Treacher Collins Syndrome 1
Narrow mouth, Cryptorchidism, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Choanal at... OMIM:154500
Gaucher Disease, Perinatal Lethal
Narrow mouth, Petechiae, Open mouth, Everted lower lip vermilion, Micrognathia, Depressed nasal b... OMIM:608013
Multiple Acyl-Coa Dehydrogenase Deficiency
Developmental cataract, Hepatic periportal necrosis, Jaundice, Depressed nasal bridge, Respirator... OMIM:231680
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress OMIM:606763
Glutamine Deficiency, Congenital
Thin vermilion border, Neonatal respiratory distress, Erythema, Wide nasal bridge, Depressed nasa... OMIM:610015
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Cough, Dyspnea, Decreased DLCO OMIM:610910
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Congenital Myasthenic Syndrome
Cyanosis, High palate, Central sleep apnea, Episodic respiratory distress, Narrow jaw, Stridor, O... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Central sleep apnea, Episodic respiratory distress, Narrow jaw, Stridor, O... ORPHA:98914
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Craniofacioskeletal Syndrome
Short philtrum, Absent gallbladder, Patent ductus arteriosus, Cryptorchidism, Micrognathia, Choan... OMIM:300712
Waardenburg Syndrome Type 3
Tracheomalacia, Tented upper lip vermilion, Atelectasis, Narrow nasal bridge, Acrocyanosis ORPHA:896
Succinic Acidemia
Respiratory distress OMIM:600335
Restrictive Dermopathy 1
Short umbilical cord, Narrow nasal ridge, Narrow mouth, Temporomandibular joint ankylosis, Patent... OMIM:275210
Oromandibular Dystonia
Abnormality of the nose, Impaired mastication, Abnormal mandible morphology, Abnormality of the t... ORPHA:93958
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Moebius Syndrome
High palate, Bifid uvula, Micrognathia, Depressed nasal bridge, Abnormal nasopharynx morphology, ... OMIM:157900
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Retinal detachment, Exudative re... ORPHA:2788
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Chronic lung disease, Abnormal intestine morphology, Choanal atresia ORPHA:228426
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate, Respiratory distress ORPHA:66637
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Pneumonia, Hypoxemia, Airway obstruction, Reduced fo... ORPHA:1303
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Charge Syndrome
Narrow mouth, Chorioretinal coloboma, Anosmia, Cleft upper lip, Delayed eruption of teeth, Patent... ORPHA:138
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad nasal tip, High palate, Underdeveloped nasal alae, Abnormality of primary teeth, Wide nasal... ORPHA:438216
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exerti... OMIM:610978
Breath-Holding Spells
Cyanosis OMIM:607578
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Patent ductus arteriosus, Occipital enceph... ORPHA:1571
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Bruising susceptibility, Developmental cataract, Gingival ble... ORPHA:335
Monosomy 9P
Narrow mouth, High palate, Long philtrum, Cryptorchidism, Micrognathia, Choanal atresia, Depresse... ORPHA:261112
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distres... ORPHA:142
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Convex nasal ridge, Pleural effusion, Micrognathia, Dyspnea, Hi... ORPHA:3015
Tetraamelia Syndrome 1
Single naris, Cleft upper lip, Adrenal gland agenesis, Cataract, Micrognathia, Choanal atresia, A... OMIM:273395
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Intermediate Uveitis
Macular scar, Optic neuritis, Vitreous haze, Cystoid macular edema, Macular edema, Epiretinal mem... ORPHA:279914
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Fanconi Anemia
High palate, Absent testis, Patent ductus arteriosus, Cryptorchidism, Astigmatism, Cataract, Trac... ORPHA:84
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Craniofaciofrontodigital Syndrome
Long philtrum, Prominent superficial veins, Patent ductus arteriosus, Palmoplantar cutis laxa, Dy... ORPHA:363705
Coffin-Siris Syndrome 1
Broad nasal tip, Long philtrum, Cryptorchidism, Astigmatism, Microdontia, Retrognathia, Thin uppe... OMIM:135900
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Patent ductus arteriosus, Wide nasal bridge, Death in childhood, Macroglossi... OMIM:617303
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cerebrofacioarticular Syndrome
Narrow mouth, Tracheomalacia, Anal stenosis, Bilateral choanal atresia/stenosis, Wide nasal bridg... ORPHA:314679
Folinic Acid-Responsive Seizures
Apnea, Optic atrophy, Respiratory distress ORPHA:79097
Bilateral Perisylvian Polymicrogyria
Drooling, Aspiration, Micrognathia, Choanal atresia, Apnea, Protruding tongue, Ectopic posterior ... ORPHA:98889
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Micrognathia, Cyanotic episode ORPHA:284417
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Prematurely aged appearance, Cryptorchidism, High, narrow palate, Choanal atresia, S... ORPHA:2658
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow mouth, Abnormal ovarian morphology, Bulbous nose, Polycystic ovaries, Cryptorchidism, Choa... ORPHA:95699
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Thick lower lip vermilion, Long philtrum, Prominent nose OMIM:614407
Tarp Syndrome
Cyanosis, Pierre-Robin sequence, Tongue nodules, Abnormal duodenum morphology, Cryptorchidism, Al... ORPHA:2886
Aspergillosis