Gene Summary

phosphatidylinositol glycan anchor biosynthesis, class N

IMPC Phenotype Summary

Not Significant
Not tested


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


27 Images


XRay Images Whole Body Dorso Ventral

46 Images


XRay Images Whole Body Lateral Orientation

15 Images

MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

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.

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

Disease Similarity of
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
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
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
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
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
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
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... OMIM:612651
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
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
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, 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
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
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
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
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
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
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
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
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