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Gene: Pign MGI:1351629

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Gene Summary

Name:
phosphatidylinositol glycan anchor biosynthesis, class N
Synonyms:
N/A

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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 head shape Pignem1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pignem1(IMPC)Mbp HET Early adult 0.00
anophthalmia Pignem1(IMPC)Mbp HOM E15.5 0.00
abnormal skin morphology Pignem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Pignem1(IMPC)Mbp HOM E15.5 0.00
exencephaly Pignem1(IMPC)Mbp HOM E15.5 0.00
hyperactivity Pignem1(IMPC)Mbp HET Early adult 1.30×10-05
abnormal retina morphology Pignem1(IMPC)Mbp HET   Early adult 7.20×10-07
abnormal eye morphology Pignem1(IMPC)Mbp HET Early adult 0.00
enlarged testis Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Pignem1(IMPC)Mbp HET Early adult 0.00
small kidney Pignem1(IMPC)Mbp HET Early adult 0.00
small liver Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Pignem1(IMPC)Mbp HOM E15.5 0.00
abnormal vitreous body morphology Pignem1(IMPC)Mbp HET Early adult 1.53×10-08
abnormal craniofacial morphology Pignem1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Pignem1(IMPC)Mbp HET Early adult 0.00
facial cleft Pignem1(IMPC)Mbp HOM E15.5 0.00
abnormal testis morphology Pignem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pignem1(IMPC)Mbp HOM   Early adult 0.00
edema Pignem1(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.

Gross Morphology Embryo E14.5-E15.5

Images

27 Images

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X-ray

XRay Images Whole Body Dorso Ventral

46 Images

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XRay Images Whole Body Lateral Orientation

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MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fryns Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Clinodactyly of the 5th finger, Microphthalmia... ORPHA:2059
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Hydrocele testis, Vesicoureteral reflux, Hydronephrosis OMIM:614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hydrocele testis, Congenital megaureter, Dysphagia, Hydronephrosis, Right ventricula... ORPHA:280633

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Facial cleft, Neural tube defect OMIM:600776
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Optic nerve hypoplasia, Bilateral microphthalmos, Facial cleft, Brachyturricepha... OMIM:607597
Acalvaria
Holoprosencephaly, Hydrocephalus, Calvarial skull defect, Spina bifida ORPHA:945
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr... OMIM:142945
Frontonasal Dysplasia 3
Microphthalmia, Facial cleft, Brachycephaly OMIM:613456
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Facial Clefting, Oblique, 1
Microphthalmia, Tessier number 4 facial cleft OMIM:600251
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Anophthalmia Plus Syndrome
Anophthalmia, Facial cleft, Spina bifida ORPHA:1104
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Anteverted nares, Optic nerve hypoplasia, Proboscis... OMIM:605627
Hartsfield Syndrome
Encephalocele, Depressed nasal bridge, Craniosynostosis, Split hand, Lobar holoprosencephaly, Apl... ORPHA:2117
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... ORPHA:93323
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Frontofacionasal Dysplasia
Encephalocele, Short stature, Facial cleft, Brachycephaly, Microphthalmia, Midface retrusion ORPHA:1791
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
47,Xyy Syndrome
Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increa... ORPHA:8
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly, Amelia OMIM:601357
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Cerebrooculonasal Syndrome
Anophthalmia, Facial cleft, Brachycephaly ORPHA:66625
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Anosmia, Colob... OMIM:147250
Thanatophoric Dysplasia Type 1
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Depressed nasal bridge, Short femur,... ORPHA:1860
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Unilateral Ocular Duplication
Encephalocele, Frontal bossing, Polyhydramnios, Midline facial cleft, Dolichocephaly ORPHA:3374
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Macroorchidism ORPHA:3077
Holoprosencephaly 14
Frontal bossing, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydr... OMIM:619895
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Tapered finger OMIM:619033
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... OMIM:120400
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Holoprosencephaly 2
Aplasia of the nasal bone, Cyclopia, Remnants of the hyaloid vascular system, Proboscis, Alobar h... OMIM:157170
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis, Semilobar holoprosencephaly OMIM:601370
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Holoprosencephaly, Abnormal metacarp... ORPHA:1590
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly, Coloboma ORPHA:141333
Frontonasal Dysplasia 1
Broad nasal tip, Bifid nasal tip, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anteri... OMIM:136760
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Hypoplastic nasal septum, Hypoplasia of the brainstem, Ho... OMIM:610828
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Hydrocephal... ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Short stature, Facial cleft ORPHA:1794
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly, Coloboma OMIM:613094
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat... ORPHA:1908
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Achondroplasia
Frontal bossing, Brachydactyly, Radial bowing, Depressed nasal bridge, Rhizomelia, Short femur, B... OMIM:100800
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Molar tooth... OMIM:615665
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly OMIM:610023
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Proboscis, Choanal atres... ORPHA:141099
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc... OMIM:108720
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Microphthalmia, Cyclopia, Ethmocephaly,... OMIM:236100
Supernumerary Nostril
Facial cleft ORPHA:141096
Distal Monosomy 7Q36
Micrognathia, Bulbous nose, Symphalangism affecting the phalanges of the hand, Abnormal calvaria ... ORPHA:1636
Fragile X Syndrome
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:908
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Hypoplastic vertebral ... ORPHA:2163
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... ORPHA:440354
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus, Coloboma ORPHA:324416
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Alobar holoprosencephaly, Brachycephaly, Dolichocephaly OMIM:615433
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Facial cleft, Hydrops fetalis, Prominent occiput, Biparietal narrow... ORPHA:99776
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Frontonasal Dysplasia 2
Encephalocele, Tessier number 13 facial cleft, Craniosynostosis, Parietal foramina, Brachycephaly... OMIM:613451
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasa... OMIM:300863
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Micropenis ORPHA:75858
Monosomy 18P
Micrognathia, Brachycephaly, Wide nasal bridge, Holoprosencephaly, Microphthalmia, Brachydactyly ORPHA:1598
Partington Syndrome
Macroorchidism ORPHA:94083
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Triploidy
Finger syndactyly, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine grow... ORPHA:3376
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Micrognathia, Holoprosencephaly, Hydranencephaly, Intrauterine growth re... ORPHA:2570
Temtamy Syndrome
Pes planus, Brachydactyly, Convex nasal ridge, Micrognathia, Short toe, Chorioretinal coloboma, D... ORPHA:1777
Holoprosencephaly 4
Semilobar holoprosencephaly, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nas... OMIM:142946
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Sandal gap, Broad nasal tip, 3-4 finge... OMIM:612530
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... ORPHA:180229
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Coxa valga, Wide anterio... ORPHA:163649
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Lujan-Fryns Syndrome
Macroorchidism, Attention deficit hyperactivity disorder ORPHA:776
Ring Chromosome 21 Syndrome
Syndactyly, Clinodactyly, Small hand, Holoprosencephaly ORPHA:1445
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Iris coloboma ORPHA:77298
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb ORPHA:2182
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Acrofacial Dysostosis, Weyers Type
Mild short stature, Facial cleft ORPHA:952
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... ORPHA:562
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries ORPHA:284180
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, ... ORPHA:163966
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Fractured radius, Micrognathia, Decreased fibular diameter, Flared... OMIM:616897
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Lambotte Syndrome
Intrauterine growth retardation, Preaxial foot polydactyly, Convex nasal ridge, Semilobar holopro... OMIM:245552
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Talipes equinovarus, Microphthalmia, Intrauterine growth retard... OMIM:616570
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... OMIM:602271
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Holoprosence... ORPHA:250999
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Spina bifida occulta, Short stature, Facial cleft ORPHA:1786
Joubert Syndrome 16
Encephalocele, Coloboma, Polydactyly, Molar tooth sign on MRI OMIM:614465
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Jacobsen Syndrome
Brachydactyly, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, Missing ribs... OMIM:147791
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Restlessness, Male hypogonadism, Bruxism OMIM:300055
Oculocerebrocutaneous Syndrome
Hydrocephalus, Facial cleft, Calvarial skull defect ORPHA:1647
Alobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... ORPHA:93926
Lobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... ORPHA:93924
Semilobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal brainstem morphology, Hip... ORPHA:220386
Intellectual Developmental Disorder, Autosomal Recessive 67
Pes planus, Coloboma OMIM:618295
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Joubert Syndrome 15
Molar tooth sign on MRI, Coloboma, Preaxial polydactyly, Exencephaly OMIM:614464
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... OMIM:612651
Hydrolethalus
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia ORPHA:2189
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
49,Xxxxy Syndrome
Pes planus, Wide nose, Depressed nasal bridge, Down-sloping shoulders, Coxa valga, Depressed nasa... ORPHA:96264
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare... OMIM:619879
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Trisomy 18
Microretrognathia, Cyclopia, Choanal atresia, Spina bifida, Camptodactyly of finger, Abnormality ... ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Microphthalmia OMIM:613153
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Prominent nasal bridge, Microg... ORPHA:1587
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel, Ulnar bowing, Sho... OMIM:619135
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Calvarial skull de... ORPHA:3378
Pierpont Syndrome
Wide nose, Prominent subcalcaneal fat pad, Broad nasal tip, Short toe, Brachycephaly, Short foot,... OMIM:602342
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, M... ORPHA:1528
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Absent nares, Holoprosencephaly, Mandibular aplasia, Cyclopia ORPHA:990
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Microform Holoprosencephaly
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cyclopia, Holoprosence... ORPHA:280200
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Hypoplasia of the pons, Prominent nose, Talipes equinovarus, Microphthalmia, Intrau... OMIM:616171
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Cyclopia, Radial club hand, Holoprosencephaly ORPHA:2165
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Wide nasal bridge, Brachycephaly, Lobar holoprosencephaly, Coxa var... OMIM:614701
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Frontal bossing, Facial cleft, Brachycephaly ORPHA:1236
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Chorioreti... ORPHA:921
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Short femur, Depressed nasal bridge, Anteverted nar... OMIM:618188
Coach Syndrome 2
Molar tooth sign on MRI, Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... OMIM:613313
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Brachydactyly, Broad hallux, Prominent nasal bridge, Micrognathia, Tapered finger,... OMIM:618659
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Pseudotrisomy 13 Syndrome
Encephalocele, 11 pairs of ribs, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, P... OMIM:264480
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia... OMIM:146510
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Prominent occi... OMIM:619339
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, Olivopontocerebel... ORPHA:370959
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Hydrocephalus, Brachycephaly, Pro... OMIM:220210
Holoprosencephaly
Anophthalmia, Flat occiput, Depressed nasal ridge, Absent nares, Holoprosencephaly, Chorioretinal... ORPHA:2162
Pelviscapular Dysplasia
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia,... ORPHA:93333
Microtia-Anotia
Holoprosencephaly OMIM:600674
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology ORPHA:2432
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Facial cleft, Hydrops fetalis ORPHA:268249
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Joubert Syndrome 14
Encephalocele, Prominent nasal bridge, Postaxial polydactyly, Hydrocephalus, Meningocele, Colobom... OMIM:614424
Ivic Syndrome
Frontal bossing, Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent th... OMIM:147750
Abruzzo-Erickson Syndrome
Coloboma, Radioulnar synostosis OMIM:302905
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Holoprosencephaly, Talipes equ... ORPHA:261236
Isolated Exencephaly
Abnormal calvaria morphology, Depressed nasal bridge, Holoprosencephaly, Hypoplasia of the fronta... ORPHA:563612
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th... ORPHA:93267
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Trisomy 1Q
Frontal bossing, Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Hydr... ORPHA:261344
Cofs Syndrome
Talipes, Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Mic... ORPHA:1466
Verheij Syndrome
Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Clinodactyly, Hip disl... OMIM:615583
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Stevenson-Carey Syndrome
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Coloboma, Hip dysplasia, Camptodactyl... OMIM:611961
Microphthalmia With Limb Anomalies
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... OMIM:206920
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology... OMIM:607616
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Recurrent upper respiratory tract ... OMIM:607143
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Overlapping toe, Micrognathia, Bulbous nose, Hip dislocation, Umbilical hernia, ... OMIM:613884
Agnathia-Otocephaly Complex
Mandibular aplasia, Wide nose, Holoprosencephaly, Micrognathia OMIM:202650
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Treacher-Collins Syndrome
Encephalocele, Frontal bossing, Branchial fistula, Facial cleft, Brachycephaly, Microphthalmia, M... ORPHA:861
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Hydrocephalus, Short toe, Anencephal... OMIM:269860
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Low hanging columella OMIM:619318
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... OMIM:211350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Hyperactivity, Compulsive behaviors, Aggressive behavior OMIM:309520
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Wide nasal bridge, Coloboma, Dolichocephaly, Clinodactyly of the 5th fing... OMIM:167730
Cat-Eye Syndrome
Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... ORPHA:195
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Talipes, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Umbilical hernia... ORPHA:2166
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Coloboma, Ta... OMIM:616789
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
15Q24 Microdeletion Syndrome
Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Abnormal thumb morph... ORPHA:94065
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Microphthalmia OMIM:615249
Bresek Syndrome
Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Plagiocephaly, Microphthalmia,... ORPHA:85284
Pierpont Syndrome
Pes planus, Wide nasal ridge, Short toe, Brachycephaly, Abnormality of the plantar skin of foot, ... ORPHA:487825
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Moebius Syndrome
Syndactyly, Abnormal nasopharynx morphology, Pes planus, Depressed nasal bridge, Brachydactyly, M... OMIM:157900
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Micromelia, Aqueductal stenosis, Micrognathia, Short tibia, Humerora... OMIM:251230
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Calf muscle hypertrophy, Hypoplasia of the brainstem, Holoprosencep... OMIM:253800
Pontocerebellar Hypoplasia, Type 11
Pes planus, Hypoplasia of the pons, Bulbous nose, Coloboma, Talipes equinovarus OMIM:617695
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Brachycephaly ORPHA:2528
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Abnormality of cartilage of external ear, Bilateral microphthalmos, Recurrent upper re... ORPHA:2399
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Brain stem co... OMIM:602080
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutr... ORPHA:79312
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal al... ORPHA:228390
Baraitser-Winter Syndrome 2
Trigonocephaly, Microphthalmia, Coloboma OMIM:614583
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, ... ORPHA:90674
Acromelic Frontonasal Dysostosis
Encephalocele, Optic nerve hypoplasia, Parietal foramina, Midline facial cleft, Brachycephaly OMIM:603671
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Macroorchidism, Hyd... ORPHA:261318
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:120433
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Depressed nasal bridge, Hydrocephalus, Polydactyly, Microphthalmia OMIM:602501
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia, Facial cleft, Hypoplasia of the frontal bone ORPHA:306542
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... ORPHA:3412
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Ir... ORPHA:251014
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Joubert Syndrome 2
Encephalocele, Frontal bossing, Depressed nasal bridge, Brainstem dysplasia, Abnormal foot morpho... OMIM:608091
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Calf muscle hypertrophy, Microphthalmia, Hydrocephalus, Hypoplasia of the brainstem OMIM:613155
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Small hand, Brachycephaly, Wid... ORPHA:1449
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Hartsfield Syndrome
Syndactyly, Wide nose, Craniosynostosis, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectro... OMIM:615465
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Micro... OMIM:615181
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Depressed nasal ridge, Patellar hypoplasia, Coloboma, ... ORPHA:464288
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb ORPHA:3434
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ... ORPHA:63259
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypo... ORPHA:959
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal external nose morphology, Prominent oc... ORPHA:556955
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Intrauterine growth retardation ORPHA:291
Spondyloepiphyseal Dysplasia Congenita
Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof... ORPHA:94068
Otodental Dysplasia
Coloboma, Anteverted nares OMIM:166750
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... OMIM:169550
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Temtamy Syndrome
Frontal bossing, Pes planus, Convex nasal ridge, Micrognathia, Hip dislocation, Short 2nd toe, Ta... OMIM:218340
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Microphthalmia, Syndromic 13
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Holoprosencephaly, Biparietal ... ORPHA:818
Microtia
Holoprosencephaly ORPHA:83463
Isolated Arrhinia
Microphthalmia, Facial cleft ORPHA:1134
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Prominent nasal bridge, Abnorma... ORPHA:468631
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... OMIM:613848
Babesiosis
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Leukopenia... ORPHA:108
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis OMIM:218670
3Mc Syndrome 3
Growth delay, Short stature, Facial cleft OMIM:248340
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Depressed nasal bridge, Brachycephaly, Coloboma OMIM:612379
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... ORPHA:649929
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Nanophthalmos
Microphthalmia ORPHA:35612
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... ORPHA:1553
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Fraser Syndrome 1
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Facial cl... OMIM:219000
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Hypoplasia of the brainstem OMIM:617255
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal... ORPHA:905
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... OMIM:603903
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Frontal bossing, Wide nose, Flat occiput, Broad hallux, Prominent nasal bridge, Abnormality of th... ORPHA:251028
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Knee flexion contracture, Camp... OMIM:619694
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Prominent nasal bridge, Coloboma OMIM:618652
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the ... ORPHA:508488
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polyd... OMIM:610829
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Adams-Oliver Syndrome 2
Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Absent distal phalanges, Short... OMIM:614219
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Rhizomelic arm shortening, Polyhydramnios, Abnormally large globe ORPHA:96190
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida oc... OMIM:618736
Warburg Micro Syndrome 1
Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Microphthalmia OMIM:600118
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Intrauterine growth retardation ORPHA:858
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Charge Syndrome
Brachydactyly, Anophthalmia, Depressed nasal bridge, Choanal atresia, Talipes, Aqueductal stenosi... ORPHA:138
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Marden-Walker Syndrome
Anteverted nares, Arachnodactyly, Micrognathia, Wide anterior fontanel, Hypoplasia of the brainst... OMIM:248700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... ORPHA:158057
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, ... OMIM:210710
Mosaic Variegated Aneuploidy Syndrome
Frontal bossing, Wide nose, Micrognathia, Depressed nasal ridge, Holoprosencephaly, Clinodactyly ... ORPHA:1052
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr... ORPHA:53035
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... OMIM:208540
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal nostril morphology, Abnormal morphology of the radius ORPHA:3469
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Heparan sulfate exc... OMIM:252920
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Adducted thumb, Genu valgu... OMIM:616145
Heart And Brain Malformation Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide anterior fontanel, Wide n... OMIM:616920
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent nose, Microphthalmia, Convex... OMIM:610756
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Micrognathia, Coloboma, Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Broad hallux, Micrognathia, Postaxial hand polydactyl... OMIM:615948
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell, Microp... ORPHA:1135
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Hypoplasia of the brainstem OMIM:615771
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Plagiocephaly, Dolichocephaly, Aniridia, Umbilical hernia ORPHA:1101
Joubert Syndrome 37
Frontal bossing, Wide nose, Anteverted nares, Postaxial polydactyly, Wide nasal bridge, Molar too... OMIM:619185
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Brachycephaly, Midline defect of the nose, Bifid nose, Cranium bifidum... OMIM:229400
1Q21.1 Microdeletion Syndrome
Frontal bossing, Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Bulbous nose, Wide nasal br... ORPHA:250989
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Talipes, Micrognathia, Preaxial hand polyd... ORPHA:564
Osteoporosis-Pseudoglioma Syndrome
Frontal bossing, Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology... ORPHA:2788
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... OMIM:209950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Pes planus, Slender finger, Bulbous nose, Coloboma, Clinodactyly of the 5th finger, Umbilical her... ORPHA:329224
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Nanophthalmos 4
Microphthalmia OMIM:615972
Bartsocas-Papas Syndrome 1
Microphthalmia, Facial cleft, Intrauterine growth retardation OMIM:263650
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ring Chromosome 10 Syndrome
Frontal bossing, Sandal gap, Micrognathia, Tapered finger, Wide nasal bridge, Microphthalmia, Int... ORPHA:1438
Baraitser-Winter Syndrome 1
Anteverted nares, Duplication of phalanx of hallux, Wide nasal bridge, Chorioretinal coloboma, Tr... OMIM:243310
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of ... ORPHA:2547
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... OMIM:216360
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... OMIM:607323
Achondrogenesis, Type Ii
Frontal bossing, Polyhydramnios, Edema, Abnormally large globe, Disproportionate short-trunk shor... OMIM:200610
Cerebrooculofacioskeletal Syndrome 1
Prominent nasal bridge, Rocker bottom foot, Micrognathia, Prominent nose, Coxa valga, Knee flexio... OMIM:214150
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Impulsivity, Precocious puberty, Unilateral renal hypoplasia, Agitation, Attention deficit hypera... OMIM:619950
Intellectual Developmental Disorder, Autosomal Dominant 53
Posterior plagiocephaly, Short femur, Brachycephaly, Genu valgum OMIM:617798
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Martsolf Syndrome 1
Pes planus, Short metacarpal, Depressed nasal bridge, Micrognathia, Broad nasal tip, Metatarsus a... OMIM:212720
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... ORPHA:2334
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormal occipital bone morphology ORPHA:2356
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Pes cavus OMIM:278780
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Talipes, Cli... OMIM:301044
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Pallister-Hall Syndrome
Depressed nasal ridge, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Radial bowing... ORPHA:672
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brac... OMIM:218350
Walker-Warburg Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:899
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Prominent nose, Micrognath... ORPHA:435638
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, 2-4 finger synd... OMIM:107480
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hip dysplasia, Chorioretinal co... ORPHA:494344
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thy... ORPHA:744
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Sandestig-Stefanova Syndrome
Rocker bottom foot, Wide nasal bridge, Camptodactyly, Trigonocephaly, Microphthalmia, Clinodactyl... OMIM:618804
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Halperin-Birk Syndrome
Micrognathia, Hip dislocation, Semilobar holoprosencephaly, Talipes equinovarus, Umbilical hernia... OMIM:618651
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Micrognathia, Camptodactyly of finger, Intrauterine growth retardation ORPHA:48431
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Dysphagia, Rod-con... OMIM:252930
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Coloboma, Short palm, Clinodactyly of the 5th finger, Iris coloboma, Microretrognat... ORPHA:508498
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Rocker bottom foot, Micrognathia, Camptodactyly of finger, Bilateral micr... OMIM:610758
Curry-Jones Syndrome
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Prominent nose, Short tibia,... OMIM:616300
Oculofaciocardiodental Syndrome
Prominent nasal bridge, Bifid nasal tip, Short thumb, 2-3 toe syndactyly, Flexion contracture of ... ORPHA:2712
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Brachycephaly, Coloboma, Cutane... OMIM:606851
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... ORPHA:1359
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Hydrocep... ORPHA:974
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Micrognathia, Abnormal nasal mor... ORPHA:404440
Charge Syndrome
Hypoplasia of the ulna, Anophthalmia, Choanal atresia, Down-sloping shoulders, Micrognathia, Abse... OMIM:214800
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Decreased calvarial os... OMIM:618265
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Acrocallosal Syndrome
Microretrognathia, Frontal bossing, Finger syndactyly, Toe syndactyly, Duplication of thumb phala... OMIM:200990
Mend Syndrome
Overlapping fingers, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Wide an... ORPHA:401973
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postna... OMIM:206900
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad hallux, Bulbous nose, Microphtha... OMIM:614105
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic dis... OMIM:617516
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... ORPHA:824
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Micrognathia, Aplasia of... OMIM:301043
Srd5A3-Cdg
Coloboma, Palmoplantar keratoderma, Optic disc hypoplasia ORPHA:324737
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Abnormal foot morphology, Bulbous nose, Bilateral microphthal... ORPHA:369891
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Short thumb, Bulbous nose, Retinal coloboma, Microp... OMIM:244300
Branchio-Oculo-Facial Syndrome
Broad nasal tip, Preaxial hand polydactyly, Wide nasal bridge, Coloboma, Dolichocephaly, Intraute... ORPHA:1297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydrocephalu... OMIM:236670
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Missing ribs, Hydroce... ORPHA:3301
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Wide anterior fonta... OMIM:617925
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short nose, Sandal gap OMIM:300887
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Frontorhiny
Encephalocele, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Midline... ORPHA:391474
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Brachycephaly, Parietal bossing, Genu varum, Long toe, Anteverted nares, Depressed ... OMIM:264090
Microphthalmia, Syndromic 9
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... OMIM:601186
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Choanal atresia, Micrognathia, Tapered finger, Short thumb, Anenc... OMIM:619148
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Broad long bones, Fifth finger distal phalanx clinodactyly, Underdeveloped nasal... OMIM:257850
Hallermann-Streiff Syndrome
Frontal bossing, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Micrognathia, M... OMIM:234100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine OMIM:252900
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly OMIM:602361
Nance-Horan Syndrome
Microphthalmia, Short metacarpal, Prominent nasal bridge, Prominent nose ORPHA:627
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy... OMIM:606003
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Overlapping toe, Bulbous nose, Wide nasal bridge, Retinal col... OMIM:618571
Premature Aging Syndrome, Penttinen Type
Frontal bossing, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Convex nasal r... OMIM:601812
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Umbilical hernia, Joint contracture ... OMIM:618914
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly ORPHA:2211
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Frontal bossing, Depressed nasal bridge, Micrognathia, Small hand, Short foot, Severe intrauterin... OMIM:241410
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Wide nasal ... ORPHA:1352
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia OMIM:308350
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Lobar holoprosencephaly, Prominent occiput, Intrauterine growth retardati... OMIM:618500
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Bulbous nose OMIM:619981
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... OMIM:614643
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Bilateral microphthalmos, Atrophy/Degeneration affecting the brainstem ORPHA:77299
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... ORPHA:99330
Basal Cell Nevus Syndrome 1
Frontal bossing, Down-sloping shoulders, Spina bifida, Hydrocephalus, Plantar pits, Irregular oss... OMIM:109400
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Camptodactyly of toe, Wide nasal bridge, Biparietal... ORPHA:251038
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Depressed nasal bridge, Talipes, Micrognathia, Talipes equinovarus, Broa... OMIM:300990
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... ORPHA:91138
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Recurrent patellar dislocatio... OMIM:615877
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia, Prominent nose OMIM:606744
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Prominent nose, Micrognathia, Coloboma, Hypoplastic... OMIM:180849
Anterior Segment Dysgenesis 2
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia OMIM:610256
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping fingers, Overlapping toe, Bulbous nose, Hip dysplasia, Prominent fingertip pads, Micr... OMIM:618494
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow... ORPHA:290
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Short stature, Brachycephaly ORPHA:264200
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Acrania, Micrognathia, Holoprosencephaly, Short nose OMIM:618820
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia,... ORPHA:77259
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Mosaic Trisomy 1
Microretrognathia, Frontal bossing, Long toe, Toe syndactyly, Depressed nasal bridge, Arachnodact... ORPHA:1692
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... OMIM:617883
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Anophthalmia, Plagiocephaly, Growth delay, Microphthalmia ORPHA:2538
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Ab... ORPHA:247585
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... ORPHA:398124
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f... ORPHA:3103
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Pes planus, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, 2-3 toe syn... OMIM:620098
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Stromme Syndrome
Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Hydrocephalus, Preaxial polydactyly... OMIM:243605
Focal Dermal Hypoplasia
Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Lo... ORPHA:2092
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Syndactyly, Anteverted nares, Choanal atresia, Micrognathia, Hypoplasia of the p... OMIM:616975
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Coloboma, Abnormal finger morphology, Cranial asymmetry OMIM:163200
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Myoclonic-Astatic Epilepsy
Syndactyly, Anteverted nares, Wide nasal bridge, Microphthalmia, Thick nasal alae ORPHA:1942
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Flat occiput, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microphthalmia OMIM:152950
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb OMIM:617244
Otodental Syndrome
Anteverted nares, Lens coloboma, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma, Phocomelia, Syn... OMIM:268300
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... ORPHA:158061
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Pancreat... OMIM:617052
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Anteverted nares, Synostosis of carpal bones, Micrognathia ORPHA:3191
Wiedemann-Rautenstrauch Syndrome
Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Wide nasal ridge, A... ORPHA:3455
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Biparietal narrowing, Microphthalmia, Short nose, Intrauterine gr... ORPHA:1915
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Marcus-Gunn Syndrome
Coloboma, Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Abnormal occipit... ORPHA:3472
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Port... OMIM:207800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Hypoplasia of the b... OMIM:253280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ... OMIM:619418
Micro Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Retinal coloboma, Microphthalmia, Short nose, ... ORPHA:2510
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Optic disc coloboma, Re... OMIM:213300
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Prominent nasal bridge, Sandal gap, Micrognathia, Tapered fing... ORPHA:193
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia ORPHA:137634
Momo Syndrome
Frontal bossing, Bilateral microphthalmos, Brachycephaly, Femoral bowing, Large hands, Short ster... ORPHA:2563
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma ORPHA:363741
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... ORPHA:251066
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Talipes, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Plagiocephaly, Coloboma,... ORPHA:453499
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Frontal bossing, Disproportionate short-limb short stature, Facial cleft, Hydrops fetalis ORPHA:93271
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... OMIM:609053
Galloway-Mowat Syndrome 1
Flat occiput, Narrow nasal ridge, Prominent nose, Micrognathia, Slender finger, Hypoplasia of the... OMIM:251300
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Refsum Disease
Short metacarpal, Abnormal foot morphology, Anosmia, Hammertoe, Abnormal epiphysis morphology, Mi... ORPHA:773
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Focal Dermal Hypoplasia
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ... OMIM:305600
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... OMIM:300908
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Brachycephaly, Microphthalmia, Short nose, Clinodactyly ... OMIM:614225
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle ... OMIM:302960
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Teebi-Shaltout Syndrome
Syndactyly, Turricephaly, Ulnar deviation of the hand, Rocker bottom foot, Broad nasal tip, Under... OMIM:272950
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Depressed nasal bridge, Lower limb asymmetry, Neonatal epiphyseal stippling, Hip... ORPHA:35173
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Severe short stature, Hydrocephalus, Growth delay, Microphthalmia, Midface retrusion ORPHA:2556
Kapur-Toriello Syndrome
Microphthalmia, Bulbous nose, Retinal coloboma, Iris coloboma ORPHA:2328
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:212550
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Finger syndactyly ORPHA:261272
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Linear Nevus Sebaceus Syndrome
Frontal bossing, Genu recurvatum, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microph... ORPHA:2612
Warburg Micro Syndrome 3
Micrognathia, Brachycephaly, Ankle clonus, Clinodactyly of the 5th finger, Microphthalmia, Short ... OMIM:614222
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Cryptorchidism, Polysplenia, Attention deficit hyperactivity di... OMIM:614294
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Optic disc coloboma, Abnormal shoulder morphology, Ch... ORPHA:568
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Meckel Syndrome, Type 1
Occipital encephalocele, Bowing of the long bones, Syndactyly, Talipes, Postaxial polydactyly, Mi... OMIM:249000
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Anosmia, Coloboma, Aplasia of the nose, Microphthalm... OMIM:603457
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx o... ORPHA:364577
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly... OMIM:277900
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Hydrocephalus, Wide nasal bridge, ... OMIM:614083
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis OMIM:207750
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Broad finger, Microphthalmia, Short phalanx of finger OMIM:302350
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Warburg Micro Syndrome 4
Microphthalmia, Prominent nasal bridge, Anteverted nares, Brachycephaly OMIM:615663
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... OMIM:260920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Toe syndactyly, Choanal atresia, Broad nasal tip, Split hand, De... OMIM:129900
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice... OMIM:615512
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia, Calvarial skull ... ORPHA:2052
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... ORPHA:822
Phakomatosis Pigmentokeratotica
Hemiatrophy, Coloboma, Spina bifida ORPHA:2874
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Wide nasal bridge, 3-4 toe syndactyly, Microphthalmia, Clinodactyly, Th... OMIM:618727
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Prominent nose, Micrognathi... OMIM:300895
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Polydactyly, Holoprosenceph... ORPHA:95494
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short umbilical cord, Tapered finger OMIM:618367
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ... OMIM:607625
Spondylo-Ocular Syndrome
Pes planus, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Deafness, X-Linked 7
Wide nasal bridge, Unilateral microphthalmos OMIM:301018
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Pes planus, Optic nerve hypoplasia, Sagittal craniosynostosis, Underdeveloped nasal alae, Broad n... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Pes planus, Optic nerve hypoplasia, Sagittal craniosynostosis, Underdeveloped nasal alae, Broad n... ORPHA:352665
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin... ORPHA:84
Kabuki Syndrome
Hydrocephalus, Small hand, Hip dislocation, Coloboma, Short columella, Short middle phalanx of fi... ORPHA:2322
Thauvin-Robinet-Faivre Syndrome
Pes planus, Bowing of the legs, Long hallux, Pedal edema, Coloboma, Large hands, Retinal coloboma... OMIM:617107
Tuberous Sclerosis Complex
Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Hyperactivity, Repetitive compulsiv... ORPHA:805
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Anteverted nares, Overlapping toe, Broad distal phalanx o... ORPHA:464738
Trichothiodystrophy 3, Photosensitive
Trigonocephaly, Microphthalmia, Intrauterine growth retardation OMIM:616395
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Buphthalmos, Hypoplasia of the brainstem, Microphthalmia OMIM:613150
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Micrognathia, Brachycephaly, ... OMIM:607932
Bohring-Opitz Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Coloboma, Trigonocepha... ORPHA:97297
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Hydrocephalus, Bulbous nose, Wide nasal bridge, Depressed nasal tip, Plagioceph... OMIM:619475
Fontaine Progeroid Syndrome
Syndactyly, Turricephaly, Depressed nasal bridge, Craniosynostosis, Micrognathia, Wide anterior f... OMIM:612289
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Iris coloboma, Macular coloboma OMIM:615145
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Depressed nasal bridge, Choanal atresia, Broad hallux, Underdeveloped nasal alae,... OMIM:620186
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, A... ORPHA:284160
Renpenning Syndrome 1
Micrognathia, Bulbous nose, Wide nasal bridge, Brachycephaly, Narrow foot, Coloboma, Synostosis o... OMIM:309500
Galloway-Mowat Syndrome 3
Frontal bossing, Arachnodactyly, Micrognathia, Hip dislocation, Camptodactyly, Microphthalmia, Mi... OMIM:617729
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Brachydactyly, Broad thumb, Micrognathia OMIM:614526
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Growth delay OMIM:614886
Familial Multiple Lipomatosis
Coloboma, Bowing of the long bones ORPHA:199276
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... OMIM:608594
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorior... OMIM:612109
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Clinodactyly, 4-5 finger syndac... OMIM:164200
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Camptod... OMIM:614230
Atelis Syndrome 2
Frontal bossing, Pes planus, Remnants of the hyaloid vascular system, Prominent nose, Micrognathi... OMIM:620185
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Small hand, Short foot, Microphthalmia, Intrauterine gro... ORPHA:2714
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Long fingers, Brachycephaly, Microphthalmia OMIM:156610
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Wide nasal bridge, Brachycephaly, Microphthalmia, Acetabular dysplasia, Broad t... OMIM:201180
Monosomy 9Q22.3
Hydrocephalus, Plantar pits, Umbilical hernia, Polydactyly, Trigonocephaly, Microphthalmia, Short... ORPHA:77301
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Hallermann-Streiff Syndrome
Frontal bossing, Choanal atresia, Underdeveloped nasal alae, Micrognathia, Small hand, Brachyceph... ORPHA:2108
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery sten... OMIM:617913
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Absent mesencephalon OMIM:601374
Dubowitz Syndrome
Syndactyly, Pes planus, Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge,... OMIM:223370
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic ki... OMIM:249100
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia OMIM:268320
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Mic... OMIM:256520
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis OMIM:615947
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Myhre Syndrome
Brachydactyly, Overlapping toe, Prominent nasal bridge, Short toe, 2-3 toe syndactyly, Cone-shape... OMIM:139210
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th... ORPHA:261112
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Rothmund-Thomson Syndrome, Type 2
Frontal bossing, Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Short thumb, S... OMIM:268400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Familial Mediterranean Fever
Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc... ORPHA:342
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Witteveen-Kolk Syndrome
Proximal placement of thumb, Clinodactyly, Short palm, Clinodactyly of the 5th finger, Iris colob... OMIM:613406
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Anteverted nares, 2-3 toe syndactyly OMIM:616449
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Umbilical hernia, Short stature OMIM:300166
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Intra... OMIM:603467
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Tapere... OMIM:620005
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Short nose, Anteverted nares OMIM:234050
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplasia of the distal phalanx of... OMIM:608670
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... OMIM:609049
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Dolichocephaly, Microphthalmia, In... OMIM:113620
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Cherry red spot of the ma... ORPHA:77293
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Clinodactyly of the 5th finger, Microphthalmia, Short nose ORPHA:65286
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent nose, Micrognathia, Brachycephaly, Prominent fingertip pads, Clinodactyly of the 5th fi... OMIM:612474
Cat Eye Syndrome
Micrognathia, Absent radius, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:115470
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Short thumb, Hydrocephalus, Preaxial hand polydactyly, Partial dupli... OMIM:227646
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers ORPHA:335
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hydromyelia OMIM:600145
22Q11.2 Deletion Syndrome
Turricephaly, Arachnodactyly, Choanal atresia, Spina bifida, Prominent nasal bridge, Micrognathia... ORPHA:567
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Pes planus, Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Shor... OMIM:601552
Fryns Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Clinodactyly of the 5th finger, Microphthalmia... ORPHA:2059
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Lower limb asymmetry, Micrognathia ORPHA:2505
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Larg... ORPHA:2636
Cockayne Syndrome B
Slender nose, Prominent nasal bridge, Ivory epiphyses of the phalanges of the hand, Hypoplasia of... OMIM:133540
Aicardi Syndrome
Missing ribs, Optic disc coloboma, Small hand, Plagiocephaly, Hip dysplasia, Chorioretinal colobo... ORPHA:50
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis of the capita... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis of the capita... ORPHA:353277
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Splenomegaly... OMIM:181000
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Prominent nose, Long nose, Missing ribs, Bulbous nose, Depressed nasal ridge, ... ORPHA:2769
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... ORPHA:464
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Microphthalmia ORPHA:1806
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma, Recurrent upper respiratory tract infections, Micrognathia OMIM:618183
Tetraamelia Syndrome 1
Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Hypoplastic pelvis, Microphthalmia, T... OMIM:273395
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ... OMIM:227645
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma OMIM:221900
Esophageal Atresia
Coloboma, Clinodactyly, Choanal atresia ORPHA:1199
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx OMIM:600901
Aicardi Syndrome
Anteverted nares, Spina bifida, Proximal placement of thumb, Missing ribs, Optic disc coloboma, M... OMIM:304050
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Transverse facial cleft,... OMIM:164210
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx OMIM:227650
Papillorenal Syndrome
Microphthalmia, Optic disc coloboma, Retinal coloboma OMIM:120330
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad hallux, Convex nasal ridge, Avascular necrosis of the capital femoral epiphysis, Coloboma, ... ORPHA:353281
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation ORPHA:2728
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short nose OMIM:601675
Skin Creases, Congenital Symmetric Circumferential, 2
Pes planus, Depressed nasal bridge, Micrognathia, Tapered finger, Long fingers, Wide nasal bridge... OMIM:616734
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Pes planus, Remnants of the hya... OMIM:619539
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Degcags Syndrome
Syndactyly, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Craniosynostosis, Prominent... OMIM:619488
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Depressed nasal bridge, Wide nasal bridge OMIM:110100
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Iris coloboma OMIM:309801
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontal bossing, Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Aqu... OMIM:619534
Fryns Syndrome
Microretrognathia, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, Short thumb... OMIM:229850
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... ORPHA:637
Fraser Syndrome 2
Microphthalmia, Wide nose, Cutaneous syndactyly, Underdeveloped nasal alae OMIM:617666
Oculocerebrorenal Syndrome Of Lowe
Frontal bossing, Flat occiput, Micrognathia, Hip dislocation, Genu valgum, Buphthalmos, Umbilical... ORPHA:534
Townes-Brocks Syndrome
Broad hallux phalanx, Pes planus, Toe syndactyly, Toe clinodactyly, Lower limb asymmetry, Abnorma... ORPHA:857
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Calvarial skull defect, Brach... OMIM:100300
Trichothiodystrophy
Craniosynostosis, Hypoplasia of mandible relative to maxilla, Bilateral microphthalmos, Clubbing,... ORPHA:33364
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Congenital aphakia ORPHA:137675
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Lymphedema-Distichiasis Syndrome
Microphthalmia, Micrognathia OMIM:153400
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing OMIM:259770
Phace Syndrome
Microphthalmia, Iris coloboma, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening... ORPHA:93325
Cockayne Syndrome
Abnormal epiphysis morphology, Microphthalmia, Thickened calvaria, Convex nasal ridge ORPHA:191
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Cockayne Syndrome Type 3
Microphthalmia, Narrow nose ORPHA:90324
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Pes planus, Ulnar deviation of the hand, Broad hallux, Long toe, Arach... ORPHA:261537
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Pes planus, Ulnar deviation of the hand, Broad hallux, Long toe, Taper... ORPHA:2152
Proximal Renal Tubular Acidosis
Coloboma ORPHA:47159
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Calcaneovalgus deformity, Long hallux, Iris coloboma, Long toe, Syndactyly, Broad hallux, Arachno... ORPHA:261552
Mowat-Wilson Syndrome
Wide nasal bridge, Chorioretinal coloboma, Microphthalmia, Prominent nasal tip, Iris coloboma, Lo... OMIM:235730
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Hip dislocation, Genu valgum, Finger swelling, Microphthalmia OMIM:309000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos, Choanal atresia, Micrognathia OMIM:154500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Hydrocele testis, Vesicoureteral reflux, Hydronephrosis OMIM:614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hydrocele testis, Congenital megaureter, Dysphagia, Hydronephrosis, Right ventricula... ORPHA:280633

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 Pign

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 Pign.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pigntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pignem1(IMPC)Mbp Exon Deletion Mice

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