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Gene: Hacd1 MGI:1353592

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Gene Summary

Name:
3-hydroxyacyl-CoA dehydratase 1
Synonyms:
Ptpla

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
abnormal placenta size Hacd1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Hacd1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Hacd1em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Hacd1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Hacd1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Hacd1em1(IMPC)Mbp HOM E15.5 0.00
cleft palate Hacd1em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Hacd1em1(IMPC)Mbp HET Early adult 3.36×10-05
abnormal placenta morphology Hacd1em1(IMPC)Mbp HET E15.5 0.00
abnormal skin morphology Hacd1em1(IMPC)Mbp HET Early adult 0.00
edema Hacd1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Hacd1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal retina morphology Hacd1em1(IMPC)Mbp HET Early adult 3.18×10-05
abnormal craniofacial morphology Hacd1em1(IMPC)Mbp HOM E15.5 0.00
edema Hacd1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Hacd1em1(IMPC)Mbp HOM E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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Gross Morphology Embryo E14.5-E15.5

Images

13 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Hacd1 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 Hacd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myopathy 11
Elevated hepatic transaminase, Weakness of facial musculature OMIM:619967
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle... ORPHA:2020

The table below shows human diseases predicted to be associated to Hacd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Acatalasemia
Reduced catalase level OMIM:614097
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Lipedema
Edema OMIM:614103
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation, Cleft palate, Edema OMIM:616570
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Growth delay, High palate, Narrow mouth, Microphthalmia ORPHA:2528
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mmep Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3434
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
2Q24 Microdeletion Syndrome
Cleft palate, Growth delay, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia ORPHA:1617
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Cleft palate, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... OMIM:601349
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Orofacial cleft ORPHA:324416
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Anal atresia, Narrow mouth ORPHA:3469
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Short stature, Intrauterine growth retardation ORPHA:1466
Hydrolethalus
Anophthalmia, Polyhydramnios, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft pal... ORPHA:2189
Nanophthalmos
Microphthalmia ORPHA:35612
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate OMIM:164180
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate OMIM:615524
Pierpont Syndrome
Smooth philtrum, Short stature, Prominent median palatal raphe, Thin vermilion border, Widely spa... OMIM:602342
Lymphatic Malformation 2
Lymphedema OMIM:611944
Microphthalmia, Syndromic 13
Microphthalmia, Short stature, Widely-spaced incisors OMIM:300915
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Microphthalmia, High palate, Cleft palate ORPHA:1135
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo... ORPHA:487825
Cat-Eye Syndrome
Microphthalmia, Short stature, Anal atresia, Intrauterine growth retardation ORPHA:195
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia OMIM:611561
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia, In... OMIM:603194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Nanophthalmos 4
Microphthalmia OMIM:615972
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Monosomy 18P
Short stature, Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtr... ORPHA:1598
Braddock-Carey Syndrome 2
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate OMIM:619981
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia OMIM:614583
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Intrauterine growth r... ORPHA:228390
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Edema, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia ORPHA:2505
Frontonasal Dysplasia 1
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... OMIM:136760
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
White Sponge Nevus 2
Edema OMIM:615785
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Congenital Toxoplasmosis
Microphthalmia, Ascites, Intrauterine growth retardation ORPHA:858
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Seckel Syndrome 2
Short stature, Growth delay, Microdontia, Microphthalmia, Microglossia OMIM:606744
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Hydrops fetali... ORPHA:3378
Fetal Alcohol Syndrome
Thin upper lip vermilion, Short stature, Non-midline cleft lip, Cleft palate, Microdontia, Microp... ORPHA:1915
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Cleft palate, Microphthalmia, Intrauterine growth retard... OMIM:611134
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Warburg Micro Syndrome 1
Microphthalmia, Thin vermilion border, Short stature, Narrow mouth OMIM:600118
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal... OMIM:607597
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Growth delay, Microphthalmia, Intrau... ORPHA:85284
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Thin vermilion border, Long philtrum, Microphthalmia, Intrauterine growth ... ORPHA:1438
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, High, narrow palate, Increased nuchal translucency, Cleft palate, Anter... OMIM:618494
Temtamy Syndrome
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology ORPHA:1777
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Solitary Median Maxillary Central Incisor
Anophthalmia, Short stature, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, So... OMIM:147250
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia... ORPHA:2728
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Microphthalmia, Rhizomelia, Short philtrum ORPHA:93267
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Duodenal stenosis ORPHA:2547
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature, Long philtrum OMIM:300887
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermilion, Long philtrum, Mi... OMIM:152950
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Microphthalmia, Widely spaced teeth OMIM:619694
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Cleft upper lip, Deep philtr... OMIM:612530
Heart And Brain Malformation Syndrome
Polyhydramnios, Cleft lip, High, narrow palate, Thick lower lip vermilion, Growth delay, Everted ... OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Narrow mouth, Microphthalmia, Mild short stature OMIM:614833
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Wide mouth, Short philtrum, Microphthalmia, Intrauterine growth retard... ORPHA:163966
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Short stature, Cleft upper lip, Postnatal growth retardation, Orofacial... OMIM:243310
Fanconi Anemia, Complementation Group S
Macrodontia, Short stature, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip v... OMIM:617883
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Downturned corners... ORPHA:404440
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Oligohydramnios OMIM:619053
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Oculopalatocerebral Syndrome
Microphthalmia, Short stature, Cleft palate OMIM:257910
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Dehydration, Thin vermilion border, Long philtrum, Micr... OMIM:214150
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short stature, Thin v... ORPHA:85194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Marden-Walker Syndrome
Postnatal growth retardation, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, N... OMIM:248700
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Frontofacionasal Dysplasia
Encephalocele, Short stature, Non-midline cleft lip, Cleft palate, Microphthalmia ORPHA:1791
Sandestig-Stefanova Syndrome
Microphthalmia, High palate, Orofacial cleft, Intrauterine growth retardation OMIM:618804
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Downturned corners of mouth, Macroglossia, Wide mouth, H... ORPHA:369891
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Meningocele, Cleft palate, Growth delay, Short philtru... OMIM:614424
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Microphthalmia With Limb Anomalies
Anophthalmia, Cleft upper lip, Postnatal growth retardation, Deep philtrum, Cleft palate, Growth ... OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia OMIM:613155
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel div... OMIM:616395
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Anal atresia OMIM:619318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Smooth philtrum OMIM:602501
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Short ... OMIM:619148
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:290
Microphthalmia, Syndromic 5
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia OMIM:610125
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia OMIM:614105
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Gracile Bone Dysplasia
Short stature, Aniridia, Microphthalmia, Ascites, Ankyloglossia OMIM:602361
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Microphthalmia ORPHA:163649
Bartsocas-Papas Syndrome 2
Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate OMIM:619339
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum... OMIM:618571
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft upper lip, Clef... OMIM:153400
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Postnatal growth retardation, Thin vermilion border, Severe intrauterin... OMIM:241410
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... ORPHA:1942
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Poly... ORPHA:2059
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ... OMIM:620098
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Microphthalmia, Short stature ORPHA:3191
Rodrigues Blindness
Microphthalmia, Tooth malposition, Short stature OMIM:268320
Joubert Syndrome 37
Microphthalmia, High palate, Short stature OMIM:619185
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Cleft palate, Dow... ORPHA:435638
Nance-Horan Syndrome
Microphthalmia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Microcephaly-Micromelia Syndrome
Oligohydramnios, Cleft palate, Narrow mouth, Microphthalmia, Intrauterine growth retardation OMIM:251230
3Q29 Microduplication Syndrome
Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M... ORPHA:251038
Mosaic Trisomy 9
Intestinal malrotation, Polyhydramnios, Spina bifida, Hydrops fetalis, Cleft palate, High palate,... ORPHA:99776
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Microphthalmia, Smooth philtrum OMIM:618652
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Galloway-Mowat Syndrome 3
Short stature, Edema, Hiatus hernia, High palate, Narrow mouth, Microphthalmia, Intrauterine grow... OMIM:617729
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Polyhydramnios, Cleft palate, Orofacial cleft, Umbilical h... ORPHA:2166
Moebius Syndrome
Microphthalmia, High palate, Bifid uvula, Abnormality of the dentition OMIM:157900
Trisomy 18
Short stature, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anencephaly, Narrow palat... ORPHA:3380
Frontonasal Dysplasia 2
Encephalocele, Conical tooth, Widely spaced teeth, Microphthalmia, Intrauterine growth retardatio... OMIM:613451
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Short stature, Abnormality of the dentition, High,... ORPHA:193
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Frontorhiny
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid... ORPHA:391474
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... OMIM:115470
Stevenson-Carey Syndrome
Downturned corners of mouth, Microphthalmia, Pierre-Robin sequence, Narrow mouth OMIM:611961
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Short stature, Hypoplasia of the primary teeth, Denta... OMIM:257850
Temtamy Syndrome
Microphthalmia, Long philtrum, Dental crowding, Hypoplasia of teeth OMIM:218340
Kapur-Toriello Syndrome
Intestinal malrotation, Cleft upper lip, Cleft palate, Microphthalmia, Intrauterine growth retard... OMIM:244300
Warburg Micro Syndrome 4
Short stature, Narrow mouth, Severe postnatal growth retardation, Long philtrum, Microphthalmia OMIM:615663
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Polyhydramnios, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia ORPHA:3301
Vacterl With Hydrocephalus
Anophthalmia, Polyhydramnios, Spina bifida, Esophageal atresia, Tracheoesophageal fistula, Microp... ORPHA:3412
Micro Syndrome
Short stature, High palate, Short philtrum, Delayed puberty, Microphthalmia, Intrauterine growth ... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Short stature, Unilateral microphthalmos, Bilateral cleft lip and palat... OMIM:618874
Oculo-Palato-Cerebral Syndrome
Short stature, High, narrow palate, Cleft palate, Microphthalmia, Intrauterine growth retardation ORPHA:2714
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Anal atresia, Agenesis of permanent teeth OMIM:617244
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, Growth delay, High palate, Sh... OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia OMIM:613150
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Teebi-Shaltout Syndrome
Short stature, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Micropht... OMIM:272950
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Micr... ORPHA:2839
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete ... OMIM:616300
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Bilateral m... OMIM:610828
Warburg Micro Syndrome 3
Downturned corners of mouth, Microphthalmia, Postnatal growth retardation, Narrow palate OMIM:614222
Momo Syndrome
Delayed eruption of teeth, Short stature, Bilateral microphthalmos, Thick lower lip vermilion, De... ORPHA:2563
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, High palate ORPHA:139471
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:494344
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis ORPHA:2470
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Microphthalmia ORPHA:77298
Mosaic Trisomy 1
Polyhydramnios, Increased nuchal translucency, Thick lower lip vermilion, Cleft palate, Orofacial... ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia OMIM:156610
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever... ORPHA:65286
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Walker-Warburg Syndrome
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula ORPHA:899
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Spina bifida, Proportionate short stature, High, narrow pa... OMIM:234100
8Q21.11 Microdeletion Syndrome
Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, High palate, ... ORPHA:284160
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... ORPHA:2250
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Nance-Horan Syndrome
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental... OMIM:610829
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Fanconi Anemia, Complementation Group I
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short philtrum, Short stature OMIM:610758
Acrofrontofacionasal Dysostosis 1
Short stature, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia OMIM:201180
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Microphthalmia, Anal atresia, Intrauterine growth retardation ORPHA:1352
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... OMIM:618727
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Short stature, Stomach cancer, Polyhydramnios, Increased nuchal translucenc... ORPHA:1052
Dubowitz Syndrome
Delayed eruption of teeth, Short stature, Carious teeth, Postnatal growth retardation, Velopharyn... OMIM:223370
Galloway-Mowat Syndrome 1
Short stature, Hiatus hernia, Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia, In... OMIM:251300
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Short stature, Abnormality of the dentitio... ORPHA:568
Kapur-Toriello Syndrome
Microphthalmia, Intestinal malrotation, Orofacial cleft ORPHA:2328
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Umbilical hernia,... ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Short stature, Abnormal d... ORPHA:534
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Martsolf Syndrome 1
Short stature, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition OMIM:212720
Meckel Syndrome, Type 1
Anal atresia, Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotat... OMIM:249000
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Ascites, Esophageal varix ORPHA:974
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature, Abnormality of the dentition ORPHA:1806
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
Ohdo Syndrome, X-Linked
Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdontia... OMIM:300895
Neu-Laxova Syndrome 1
Polyhydramnios, Cleft upper lip, Swollen lip, Spina bifida, Thick lower lip vermilion, Cleft pala... OMIM:256520
Congenital Fibrinogen Deficiency
Microphthalmia, Volvulus, Gingival bleeding ORPHA:335
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Microphthalmia, High palate, Short stature ORPHA:35173
Fanconi Anemia, Complementation Group F
Short stature, Polyhydramnios, Duodenal atresia, Microphthalmia, Intrauterine growth retardation OMIM:603467
Pseudotrisomy 13 Syndrome
Encephalocele, Cleft upper lip, Microphthalmia, Anal atresia, Median cleft lip and palate OMIM:264480
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Alveolar ridge overgrowth, Cleft palate, Hydranenceph... OMIM:260660
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia OMIM:302960
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Thin upper lip vermilion OMIM:619135
1Q21.1 Microdeletion Syndrome
Short stature, High palate, Long philtrum, Microphthalmia, Ankyloglossia, Intrauterine growth ret... ORPHA:250989
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... OMIM:601707
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... ORPHA:464738
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Focal Dermal Hypoplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida, Abnormality of the d... ORPHA:2092
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia, Hypoplasia of teeth OMIM:234050
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s... ORPHA:464
2Q31.1 Microdeletion Syndrome
Short stature, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border, E... ORPHA:251014
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Cleft pal... OMIM:236670
Stromme Syndrome
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Wide mouth, Microp... OMIM:243605
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Anencephaly, Cleft palate, Furrowe... ORPHA:564
Meckel Syndrome 14
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios OMIM:619879
Holoprosencephaly
Encephalocele, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, ... ORPHA:2162
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Deep philtrum, Growth delay, Umbilical hernia, Everted lower lip vermil... OMIM:613884
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Growth delay, Microphthalmia, Anal a... OMIM:614083
Pallister-Hall Syndrome
Natal tooth, Short stature, Cleft upper lip, Cleft palate, Anteriorly placed anus, Microphthalmia... OMIM:146510
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Fanconi Anemia
Aganglionic megacolon, Short stature, Spina bifida, Aplasia/Hypoplasia of the uvula, Tracheoesoph... ORPHA:84
Curry-Jones Syndrome
Microphthalmia, Intestinal malrotation ORPHA:1553
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long ... ORPHA:2526
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Short stature, Malabsorption, Microphthalmia, Triangular mouth OMIM:601675
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hamartomatous stomach polyps, ... OMIM:109400
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Short stature, Polyhydramnios, Carious tee... OMIM:620186
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Roberts Syndrome
Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Cleft palate, High palate, Severe ... ORPHA:3103
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis, Tracheoesophageal fistula, Orofacial cleft ORPHA:268249
Joubert Syndrome 2
Encephalocele, Microphthalmia, High palate OMIM:608091
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Abnormality of the dentition, High, narrow palate, Supe... ORPHA:2108
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Fryns Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cleft ... OMIM:229850
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula OMIM:229400
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Short stature, Persistence of primary teeth, Supernumera... OMIM:300166
Microphthalmia With Limb Anomalies
Macrodontia, Short stature, Cleft upper lip, Cleft palate, Thin vermilion border, High palate, Lo... ORPHA:1106
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Myhre Syndrome
Thin upper lip vermilion, Short stature, Pericardial effusion, Cleft lip, Cleft palate, Birth len... OMIM:139210
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Microphthalmia, In... OMIM:616975
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Short stature, Supernumerary tooth, Hypoplasia of teeth, Anteriorly pl... OMIM:268400
Atelis Syndrome 2
Diastema, Thick lower lip vermilion, Downturned corners of mouth, High palate, Microphthalmia OMIM:620185
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia, Long philtrum OMIM:615877
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Short stature, Protruding tongue, High, narrow palate, Oligohydramnios,... OMIM:612289
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Intestinal malrotation, Abnormality of ... ORPHA:567
Papillorenal Syndrome
Microphthalmia, Short stature, Edema OMIM:120330
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia, Oligohydramnios OMIM:617666
Yunis-Varon Syndrome
Short stature, Premature loss of primary teeth, Polyhydramnios, Abnormality of dental structure, ... ORPHA:3472
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Hypodontia, Microphthalmia, Lip pit, Abnormal palate morphology ORPHA:1236
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Narrow philtrum, Corneal stromal edema, Thin vermilion border, Microph... OMIM:601812
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia OMIM:603457
Aicardi Syndrome
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum... ORPHA:50
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Optic disc hypoplasia, Microphthalmia, Spina bifida occulta... OMIM:607323
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe... ORPHA:2538
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Conical tooth, Oligodontia, Hy... OMIM:308300
Refsum Disease
Microphthalmia ORPHA:773
Fraser Syndrome
Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Myelomeningocele, D... ORPHA:2052
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... OMIM:612109
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Aicardi Syndrome
Spina bifida, Hiatus hernia, Cleft upper lip, Postnatal growth retardation, Cleft palate, Microph... OMIM:304050
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Short stature, Polyhydramnios, Cleft upper lip, Abnormal... ORPHA:138
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate OMIM:110100
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Anal atresia OMIM:309801
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Microphthalmi... OMIM:617925
Mend Syndrome
Short stature, Asymmetry of the mouth, Cleft palate, High palate, Microphthalmia ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Jacobsen Syndrome
Pyloric stenosis, Macular hypoplasia, Microphthalmia, U-Shaped upper lip vermilion, Intrauterine ... OMIM:147791
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Short uvula, Lens coloboma, Submucous cleft hard palate, ... OMIM:619539
Bartsocas-Papas Syndrome 1
Anal stenosis, Cleft upper lip, Cleft palate, Oral synechia, Microphthalmia, Anal atresia, Intrau... OMIM:263650
Steinfeld Syndrome
Microphthalmia, Bifid uvula, Median cleft lip and palate OMIM:184705
Histiocytoid Cardiomyopathy
Microphthalmia, Cleft palate, Congenital aphakia, Pulmonary edema ORPHA:137675
Hydrolethalus Syndrome 1
Median cleft lip, Polyhydramnios, Anencephaly, Cleft palate, Microphthalmia, Intrauterine growth ... OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Short stature, Intestinal malrotation, Cleft upper lip, ... OMIM:305600
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Short stature, Carious teeth, Cleft palate, Narrow mouth, Microdontia, ... OMIM:616734
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Trichothiodystrophy
Carious teeth, High, narrow palate, Bilateral microphthalmos, Umbilical hernia, Enamel hypoplasia... ORPHA:33364
Monosomy 9P
Abnormality of the dentition, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum ORPHA:261112
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe postnatal growth retardation, Thick vermilion border, Microdontia, Microphthalmia, Smooth ... OMIM:620005
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Renpenning Syndrome 1
Thin upper lip vermilion, Macrodontia, Short stature, Cleft palate, High palate, Short philtrum, ... OMIM:309500
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Bilater... ORPHA:93325
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Cockayne Syndrome B
Severe short stature, Delayed eruption of primary teeth, Carious teeth, Postnatal growth retardat... OMIM:133540
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Short stature, Optic nerve hypoplasia, Spina bifida, Long philtrum, Mic... ORPHA:508498
Fanconi Anemia, Complementation Group C
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:227645
Witteveen-Kolk Syndrome
Thin upper lip vermilion, Branchial fistula, Short stature, Polyhydramnios, High, narrow palate, ... OMIM:613406
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia, Cleft palate ORPHA:306542
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, High palate, Bifid uvula, Dental malocclusion OMIM:601552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Degcags Syndrome
Jejunal atresia, Polyhydramnios, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, ... OMIM:619488
Treacher Collins Syndrome 1
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor... OMIM:154500
Microphthalmia, Syndromic 9
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... OMIM:601186
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia, Cleft palate, Cleft upper lip OMIM:100300
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature OMIM:600901
Pallister-Hall Syndrome
Natal tooth, Short stature, Accessory oral frenulum, Cleft lip, Cleft palate, Intrauterine growth... ORPHA:672
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature OMIM:227650
Cockayne Syndrome
Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teet... ORPHA:191
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Microphthalmia, Postnatal growth retardation, Optic disc hypoplasia ORPHA:959
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Narrow mouth, Intrauterin... ORPHA:468631
Charge Syndrome
Anal stenosis, Anophthalmia, Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Esoph... OMIM:214800
Tetraamelia Syndrome 1
Microphthalmia, Anal atresia, Cleft palate, Cleft upper lip OMIM:273395
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li... OMIM:219000
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil... ORPHA:141099
Fanconi Anemia, Complementation Group D2
Microphthalmia, Esophageal atresia, Short stature, Tracheoesophageal fistula OMIM:227646
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3186
Branchiooculofacial Syndrome
Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,... OMIM:113620
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thin upper lip vermilion, Infancy onset short-trunk short stature, Short stature,... ORPHA:508488
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Thick lower lip vermilion, Thin vermilion border, Widely spaced teeth, ... OMIM:612474
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, U-Shaped upper lip vermilion, Thin vermilion border, High palate OMIM:609945
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Cockayne Syndrome Type 3
Carious teeth, Microphthalmia, Enamel hypoplasia, Mild postnatal growth retardation ORPHA:90324
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Growth delay, Abnormal rec... ORPHA:2556
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... OMIM:157170
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Short stature, Pyloric stenosis, Submucous clef... OMIM:235730
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Frontal encephalocele, Cleft palat... OMIM:268300
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... OMIM:309800
Holoprosencephaly 1
Microphthalmia, Short stature, Median cleft lip and palate OMIM:236100
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Microphthalmia, Syndromic 6
Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Everted lower lip vermilion OMIM:253280
Isolated Arrhinia
Microphthalmia ORPHA:1134
Congenital Myopathy 11
Elevated hepatic transaminase, Weakness of facial musculature OMIM:619967
Mowat-Wilson Syndrome
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Sh... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Sh... ORPHA:261537
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Microphthalmia, Enamel hypoplasia, Short stature OMIM:309000
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Wide mouth, Branchial anoma... OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Sh... ORPHA:261552
Townes-Brocks Syndrome
Rectoperineal fistula, Short stature, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, D... ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle... ORPHA:2020

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 Hacd1

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 Hacd1.

No publications found that use IMPC mice or data for Hacd1.

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
Hacd1tm48253(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hacd1em1(IMPC)Mbp Inter-exon deletion Mice

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