Gene Summary

Name:
DLG associated protein 1
Synonyms:
Sapap1,  Gkap,  D17Bwg0511e,  SAPAP1,  DAP-1 beta,  GKAP/SAPAP,  4933422O14Rik

IMPC Data Collections

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
decreased exploration in new environment Dlgap1em1(IMPC)Tcp HOM Early adult 1.81×10-08
small adrenal glands Dlgap1em1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Dlgap1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Dlgap1em1(IMPC)Tcp HOM Early adult 0.00
abnormal eye morphology Dlgap1em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Dlgap1em1(IMPC)Tcp HOM Early adult 9.70×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Dlgap1 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.

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

The table below shows human diseases predicted to be associated to Dlgap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Schizophrenia 15
Hyperactivity OMIM:613950
Nanophthalmos 2
Microphthalmia OMIM:609549
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Immunodeficiency 8
Hyperactivity OMIM:615401
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Mental deterioration, Anxiety, Adrenal hyperplasia, Primary... OMIM:219080
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microphthalmia OMIM:274270
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300495
Early-Onset Schizophrenia
Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of peer relationships, Sui... ORPHA:96369
Nanophthalmos
Microphthalmia ORPHA:35612
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Microphthalmia OMIM:617914
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Microphthalmia, Delayed puberty, Hypogonadism ORPHA:141333
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Emotional la... OMIM:615830
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:261600
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Trichotillomania
Hair-pulling OMIM:613229
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... OMIM:275000
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Attention de... OMIM:619827
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Cryptorchidism, Hyperactivity, Abnormally large globe OMIM:618504
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Abnormal social behavior ORPHA:101039
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... ORPHA:98818
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608049
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, In... ORPHA:189427
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Aggressive behavior, Decreased ... ORPHA:85327
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Dopa-Responsive Dystonia
Agoraphobia, Abnormal social behavior, Anxiety, Panic attack, Emotional lability, Irritability ORPHA:255
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Congenital Toxoplasmosis
Cognitive impairment, Microphthalmia ORPHA:858
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Abnormal emotion/affect behavior, Hyperactivity, Microp... ORPHA:1942
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Hyperactivity, Abnormality of adrenal physiology, Cognitive impairment, In... ORPHA:43
Pierpont Syndrome
Cryptorchidism, Microphthalmia OMIM:602342
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism ORPHA:363741
Warburg Micro Syndrome 1
Cryptorchidism, Microphthalmia OMIM:600118
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
17Q12 Microduplication Syndrome
Self-injurious behavior, Microphthalmia ORPHA:261272
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Attention deficit hyperactivity disorder, Aggressive behavior, Microphthalmia OMIM:152950
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:494344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Progressive neurologic deterioration, Microphthalmia OMIM:214150
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia ORPHA:290
Trisomy 13
Cognitive impairment, Anophthalmia, Microphthalmia, Cryptorchidism, Aplasia/Hypoplasia of the iris ORPHA:3378
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Anxiety, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:404440
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Temtamy Syndrome
Microphthalmia ORPHA:1777
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Lissencephaly 8
Microphthalmia OMIM:617255
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Decreased testicular size, Microphthalmia ORPHA:85284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Lens coloboma, Microphthalmia OMIM:618914
Joubert Syndrome 14
Irritability, Microphthalmia OMIM:614424
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Self-injurious behavior, Hyperthyroidism, Anxiety, Hypothyroidism, Attention defic... ORPHA:449291
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Microphthalmia, Cryptorchidism OMIM:610125
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Mi... OMIM:147250
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Aggressive behavior, Microphthalmia, Dementia OMIM:310600
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental de... ORPHA:163681
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Aggressive behavior, Hyperactivity, Bilateral microphthalmos ORPHA:369891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... ORPHA:99819
Joubert Syndrome 37
Cryptorchidism, Decreased testicular size, Microphthalmia OMIM:619185
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Microphthalmia ORPHA:139471
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Microphthalmia, Cryptorchidism ORPHA:2470
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Elevated circulating follicle stimulating hormone l... ORPHA:95699
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... ORPHA:96253
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... ORPHA:424
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism ORPHA:228390
Seckel Syndrome 2
Microphthalmia OMIM:606744
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Moebius Syndrome
Hypogonadotropic hypogonadism, Decreased testicular size, Microphthalmia OMIM:157900
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Microphthalmia OMIM:617883
3Q29 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Microphthalmia ORPHA:65286
Hydrolethalus
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Fanconi Anemia, Complementation Group I
Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mi... OMIM:609053
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Emotional lability,... ORPHA:99889
Fetal Alcohol Syndrome
Cognitive impairment, Microphthalmia ORPHA:1915
Baraitser-Winter Syndrome 1
Cryptorchidism, Microphthalmia OMIM:243310
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Hyperactivity, Aggressive behavior, Microphthalmia OMIM:619148
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:77298
Childhood Absence Epilepsy
Anxiety, Abnormal social behavior ORPHA:64280
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:435638
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Microphthalmia ORPHA:335
Warburg Micro Syndrome 4
Cryptorchidism, Decreased testicular size, Microphthalmia OMIM:615663
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Microphthalmia OMIM:616734
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Warburg Micro Syndrome 3
Decreased testicular size, Microphthalmia OMIM:614222
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Rodrigues Blindness
Microphthalmia OMIM:268320
48,Xxxy Syndrome
Abnormal aggressive, impulsive or violent behavior, Anxiety, Irritability, Abnormal social behavior ORPHA:96263
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Anxiety, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:250989
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Marden-Walker Syndrome
Cryptorchidism, Microphthalmia OMIM:248700
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Microphthalmia OMIM:612530
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Tetraamelia Syndrome 1
Microphthalmia, Adrenal gland agenesis OMIM:273395
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Walker-Warburg Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Microphthalmia ORPHA:2728
Warburg Micro Syndrome 2
Cryptorchidism, Microphthalmia OMIM:614225
Refsum Disease
Microphthalmia ORPHA:773
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Phace Association
Optic nerve hypoplasia, Congenital hypothyroidism, Lingual thyroid, Microphthalmia OMIM:606519
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Microphthalmia OMIM:278730
Microphthalmia, Lenz Type
Cryptorchidism, Self-injurious behavior, Microphthalmia ORPHA:568
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Micro Syndrome
Cryptorchidism, Delayed puberty, Microphthalmia ORPHA:2510
Hydrolethalus Syndrome 1
Microphthalmia, Adrenal gland dysgenesis OMIM:236680
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Microphthalmia ORPHA:2505
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Microphthalmia OMIM:264480
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Cognitive impairment, Supernumerary nipple, Microphthalmia ORPHA:1236
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hypoplasia of the iris, Microphthalmia OMIM:613001
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased circulating ... OMIM:146510
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Frontorhiny
Hypopituitarism, Microphthalmia, Diabetes insipidus ORPHA:391474
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Incontinentia Pigmenti
Cognitive impairment, Attention deficit hyperactivity disorder, Supernumerary nipple, Microphthalmia ORPHA:464
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:212720
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Emotional lability ORPHA:309256
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Emotional lability ORPHA:309263
Microphthalmia, Syndromic 3
Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anophthalmia, Microph... OMIM:206900
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Mend Syndrome
Cryptorchidism, Hyperactivity, Aggressive behavior, Microphthalmia ORPHA:401973
Kapur-Toriello Syndrome
Cryptorchidism, Microphthalmia OMIM:244300
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Aggressive behavior, Microphthalmia ORPHA:464738
Holoprosencephaly
Microphthalmia, Cognitive impairment, Panhypopituitarism, Anophthalmia, Anterior hypopituitarism,... ORPHA:2162
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Dubowitz Syndrome
Cryptorchidism, Hypoplasia of the iris, Hyperactivity, Microphthalmia OMIM:223370
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Fanconi Anemia, Complementation Group F
Cryptorchidism, Decreased response to growth hormone stimulation test, Microphthalmia OMIM:603467
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Anophthalmia, Microphthalmia OMIM:615877
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hypergonadotropic hypogonadism, Attention deficit hyperactivity disorder, Micro... OMIM:227646
Monosomy 9Q22.3
Ovarian fibroma, Hyperactivity, Microphthalmia ORPHA:77301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:284160
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:614230
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Thyroid hypoplasia, Microphth... ORPHA:2166
Hallermann-Streiff Syndrome
Cryptorchidism, Hyperactivity, Microphthalmia OMIM:234100
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Microphthalmia OMIM:110100
Cohen Syndrome
Cryptorchidism, Delayed puberty, Microphthalmia ORPHA:193
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Cryptorchidism, Optic nerve hypoplasia, Pa... OMIM:610829
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia, Hypogonadism ORPHA:2250
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
Trisomy 18
Cryptorchidism, Cognitive impairment, Microphthalmia ORPHA:3380
Mosaic Trisomy 9
Cryptorchidism, Microphthalmia ORPHA:99776
Focal Dermal Hypoplasia
Cognitive impairment, Hypoplasia of the iris, Microphthalmia ORPHA:2092
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:600901
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Hypoplastic nipples, Breast aplasia, Breast hypopl... OMIM:308300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:227650
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Self-injurious behavior, Buphthalmos, Anxiet... ORPHA:534
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired social interactions, Sk... ORPHA:177907
Fryns Syndrome
Cryptorchidism, Microphthalmia ORPHA:2059
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism, Attention deficit hyperactivity disorder, Microphthalmia OMIM:616975
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia ORPHA:251014
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Emotional lability ORPHA:309271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia OMIM:236670
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Macular hypoplasia, Microphthalmia OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Microphthalmia OMIM:616300
Vacterl With Hydrocephalus
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Macroorchidism OMIM:618874
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:227645
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Hyperthyroidism, Hypoplasia of the thymus, Anxiety, Hypothyro... ORPHA:567
Norrie Disease
Self-injurious behavior, Anxiety, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Attenti... ORPHA:649
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Microphthalmia, ... ORPHA:861
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Microphthalmia OMIM:614083
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Phace Syndrome
Optic nerve hypoplasia, Ectopic thyroid, Hypothyroidism, Microphthalmia, Lens coloboma ORPHA:42775
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Joubert Syndrome 2
Microphthalmia OMIM:608091
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia OMIM:612109
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior ORPHA:1675
Cousin Syndrome
Microphthalmia OMIM:260660
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Meckel Syndrome 14
Microphthalmia OMIM:619879
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Microphthalmia, Hypogonadism OMIM:268400
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Charge Syndrome
Hypogonadotropic hypogonadism, Abnormality of the adrenal glands, Anophthalmia, Anterior hypopitu... ORPHA:138
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia OMIM:127000
Meckel Syndrome
Pancreatic fibrosis, Anophthalmia, Microphthalmia, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:564
Papillorenal Syndrome
Microphthalmia OMIM:120330
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Microphthalmia ORPHA:2612
Pierson Syndrome
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... OMIM:609049
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Cockayne Syndrome Type 3
Cognitive impairment, Progressive neurologic deterioration, Microphthalmia ORPHA:90324
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia ORPHA:2108
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Microphthalmia, Syndromic 9
Cryptorchidism, Anophthalmia, Bilateral microphthalmos OMIM:601186
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Basal Cell Nevus Syndrome
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
Histidinemia
Hyperactivity ORPHA:2157
Cockayne Syndrome
Cognitive impairment, Mental deterioration, Absence of pubertal development, Delayed puberty, Mic... ORPHA:191
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia OMIM:620005
Histiocytoid Cardiomyopathy
Polycystic ovaries, Congenital aphakia, Microphthalmia ORPHA:137675
Aicardi Syndrome
Precocious puberty, Delayed puberty, Microphthalmia ORPHA:50
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Fanconi Anemia
Absent testis, Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Cryp... ORPHA:84
Isolated Arrhinia
Microphthalmia ORPHA:1134
Cat Eye Syndrome
Microphthalmia OMIM:115470
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... ORPHA:672
Witteveen-Kolk Syndrome
Conspicuously happy disposition, Type II diabetes mellitus, Hyperactivity, Decreased response to ... OMIM:613406
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Microphthalmia ORPHA:1052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Cryptorchidism, Self-injurious behavior, Bilateral microphthalmos ORPHA:468631
Cockayne Syndrome B
Cryptorchidism, Hypoplasia of the iris, Microphthalmia OMIM:133540
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Microphthalmia OMIM:617925
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Microphthalmia, Syndromic 2
Adrenal insufficiency, Phthisis bulbi, Anophthalmia, Hypothyroidism, Microphthalmia, Cryptorchidism OMIM:300166
Meckel Syndrome, Type 1
Bile duct proliferation, Adrenal hypoplasia, Cryptorchidism, Microphthalmia OMIM:249000
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:603457
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Charge Syndrome
Hypoparathyroidism, Microphthalmia, Decreased response to growth hormone stimulation test, Self-m... OMIM:214800
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Microphthalmia OMIM:263650
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos ORPHA:33364
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Microphthalmia OMIM:609945
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Neuroocular Syndrome
Anxiety, Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Microphthalmia, Lens ... OMIM:619539
Microphthalmia, Syndromic 6
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Anterior hypopituit... OMIM:607932
Monosomy 9P
Cryptorchidism, Microphthalmia ORPHA:261112
Microphthalmia With Limb Anomalies
Cryptorchidism, True anophthalmia, Microphthalmia ORPHA:1106
Roberts Syndrome
Cryptorchidism, Microphthalmia ORPHA:3103
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal testis morphology, Microphthalmia ORPHA:2556
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior ORPHA:314647
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ... ORPHA:93325
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Renpenning Syndrome 1
Anxiety, Decreased testicular size, Microphthalmia OMIM:309500
Fryns Syndrome
Cryptorchidism, Ectopic pancreatic tissue, Microphthalmia OMIM:229850
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Aggressive behavior, Microphthalmia OMIM:309000
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Microphthalmia OMIM:613884
Tuberous Sclerosis Complex
Anxiety, Self-injurious behavior, Aggressive behavior, Abnormal social behavior ORPHA:805
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Focal Dermal Hypoplasia
Supernumerary nipple, Anophthalmia, Hypoplastic nipples, Microphthalmia, Cryptorchidism, Aniridia OMIM:305600
Degcags Syndrome
Cryptorchidism, Microphthalmia OMIM:619488
Fontaine Progeroid Syndrome
Absent nipple, Cryptorchidism, Microphthalmia, Hypoplastic nipples OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Niemann-Pick Disease Type C
Abnormal social behavior, Apathy, Aggressive behavior, Low frustration tolerance ORPHA:646
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Holoprosencephaly 2
Adrenal hypoplasia, Anterior pituitary agenesis, Microphthalmia, Diabetes insipidus OMIM:157170
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos OMIM:610828
Holoprosencephaly 1
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus OMIM:236100
Adams-Oliver Syndrome 1
Supernumerary nipple, Microphthalmia OMIM:100300
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Anxiety, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Anxiety, Abnormal social behavior ORPHA:363958
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Yunis-Varon Syndrome
Cryptorchidism, Bilateral microphthalmos, Microphthalmia ORPHA:3472
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Fraser Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2052
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia OMIM:256520
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Mowat-Wilson Syndrome
Happy demeanor, Cryptorchidism, Supernumerary nipple, Microphthalmia OMIM:235730
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology, Bilateral microphthalmos OMIM:154500
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Fraser Syndrome 1
Cryptorchidism, Abnormality of the thymus, Bilateral microphthalmos, Anophthalmia OMIM:219000
Branchiooculofacial Syndrome
Supernumerary nipple, Anophthalmia, Microphthalmia, Cryptorchidism, Ectopic thymus tissue OMIM:113620
Townes-Brocks Syndrome
Hypothyroidism, Cryptorchidism, Delayed puberty, Microphthalmia ORPHA:857
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Williams Syndrome
Overfriendliness, Anxiety, Abnormal social behavior ORPHA:904
Mowat-Wilson Syndrome
Hydrocele testis, Happy demeanor, Anxiety, Microphthalmia, Cryptorchidism ORPHA:2152
Microphthalmia, Syndromic 1
Self-mutilation, Anophthalmia, Aggressive behavior, Microphthalmia, Cryptorchidism OMIM:309800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Happy demeanor, Cryptorchidism, Microphthalmia ORPHA:261537
8Q24.3 Microdeletion Syndrome
Hyperactivity, Optic nerve hypoplasia, Ectopic posterior pituitary, Bilateral microphthalmos, Low... ORPHA:508488
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Microphthalmia OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Happy demeanor, Cryptorchidism, Microphthalmia ORPHA:261552
Choreoacanthocytosis
Hair-pulling ORPHA:2388
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210

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 Dlgap1

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 Dlgap1.

No publications found that use IMPC mice or data for Dlgap1.

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MGI Allele Allele Type Produced
Dlgap1tm270970(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors