Gene Summary

Name:
inositol polyphosphate-5-phosphatase E
Synonyms:
1200002L24Rik,  72kDa

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Inpp5etm1.1(KOMP)Vlcg HOM   Early adult 0.00
eye hemorrhage Inpp5etm1.1(KOMP)Vlcg HET Early adult 5.59×10-05
edema Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal neural tube closure Inpp5etm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal eye morphology Inpp5etm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal hindbrain morphology Inpp5etm1.1(KOMP)Vlcg HOM E12.5 0.00
polydactyly Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00
microphthalmia Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal forebrain morphology Inpp5etm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal midbrain morphology Inpp5etm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal craniofacial morphology Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal limb morphology Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Inpp5etm1.1(KOMP)Vlcg HOM E15.5 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (4 of 4)
Aorta N/A heterozygote 75% (3 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote 50% (2 of 4)
Colon N/A heterozygote 100% (4 of 4)
Diaphragm N/A heterozygote 50% (2 of 4)
Duodenum N/A heterozygote 75% (3 of 4)
Epididymis N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 100% (4 of 4)
Gall bladder N/A heterozygote 50% (2 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 75% (3 of 4)
Jejunum N/A heterozygote 50% (2 of 4)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 25% (1 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 50% (2 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 50% (2 of 4)
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 50% (2 of 4)
Parathyroid gland N/A heterozygote 25% (1 of 4)
Parotid gland N/A heterozygote 25% (1 of 4)
Penis N/A heterozygote 50% (2 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 100% (4 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 75% (3 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 50% (2 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 25% (1 of 4)
Submandibular gland N/A heterozygote 50% (2 of 4)
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 100% (4 of 4)
Thyroid gland N/A heterozygote 100% (4 of 4)
Tongue N/A heterozygote 75% (3 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Trigeminal V nerve N/A heterozygote 50% (2 of 4)
Urinary bladder N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 100% (2 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 100% (2 of 2)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

119 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

50 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

MicroCT E14.5-E15.5

Embryo reconstruction

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

Human diseases caused by Inpp5e 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 Inpp5e by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Inpp5e by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, R... OMIM:611561
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Meckel Syndrome, Type 8
Narrow chest, Occipital encephalocele, Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Enc... OMIM:613885
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Dandy-W... OMIM:603194
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial polydact... OMIM:614175
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Bowing of the lo... OMIM:611134
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb... ORPHA:294975
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Thick anterior alveolar ridges, Tal... ORPHA:2839
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Ureteral agenesis, Single transve... OMIM:236500
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Renal hypoplasia/apla... ORPHA:1988
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callosum, Hydrocephalus... OMIM:614120
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Agenesis of corpus callosum, Bowing of... OMIM:614815
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, 2-3 f... ORPHA:1692
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Unilateral renal agenesis, Microcephaly, Cleft p... OMIM:601355
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Distal Deletion 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Renal hypoplasia/aplasia, Anencephaly, ... ORPHA:1590
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Rena... OMIM:613091
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Schisis Association
Renal agenesis, Micromelia, Unilateral cleft lip, Encephalocele, Microcephaly, Tracheoesophageal ... ORPHA:63862
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Cervical r... OMIM:617927
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Anophthalmia, Submucous cleft hard... ORPHA:2189
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, ... OMIM:616546
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Intestinal malrotation, Hyp... OMIM:617866
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Short palm, Short foot, Holoprosencephaly, Sho... OMIM:269860
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Irregular dentition, Encephalocele, Agenesis of corpus callosum, Tal... OMIM:619148
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Limitation of joint mobility, Camptodactyly of finger... ORPHA:2570
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Aplasia of the bladder, Hor... OMIM:612284
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Cerebrocostomandibular Syndrome
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Tracheomalacia, Myelomeningocel... ORPHA:1393
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Twelfth rib hypoplasia, Bell-shaped thorax, Abnormal basal ganglia morph... ORPHA:397715
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephal... OMIM:251255
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus cal... ORPHA:1908
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Abnormal thorax morphology, Anophthalmia, Hypoplasia of the corpus ca... OMIM:164180
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Cerebellar hypoplasia, Talipes equinovarus, Microphthalmia, Rock... OMIM:616570
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Microphthalmia, Anal atresia, Flat a... OMIM:616300
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u... ORPHA:887
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral... ORPHA:66637
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Non-midline cleft ... ORPHA:1335
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Narrow... ORPHA:3378
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Iris colo... ORPHA:1104
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma, Microphthalmia OMIM:613094
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Molar tooth sign... OMIM:615665
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Bilateral single transverse palmar creas... ORPHA:3380
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Maternal Hyperthermia-Induced Birth Defects
Joint stiffness, Bilateral single transverse palmar creases, Microcephaly, Aplasia/Hypoplasia aff... ORPHA:2216
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia... OMIM:615633
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Agenesis of cerebellar vermis, Abnormality of the urinary system, Occipita... OMIM:213010
Trisomy 17P
Macroglossia, Flexion contracture, Wide mouth, Narrow mouth, Thick vermilion border, Hydronephros... ORPHA:261290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Joubert Syndrome 15
Nephronophthisis, Preaxial polydactyly, Exencephaly, Coloboma, Micropenis OMIM:614464
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Cerebral atrophy, A... OMIM:258860
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Open mo... OMIM:614424
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly ... OMIM:311895
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Carious teeth, Sandal gap, Wi... OMIM:617102
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Crossed fu... OMIM:618142
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, P... ORPHA:261344
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callos... ORPHA:564
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea... OMIM:146510
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Abnormality of th... OMIM:249000
Joubert Syndrome 7
Abnormal corpus callosum morphology, Nephronophthisis, Hypoplasia of the brainstem, Stage 5 chron... OMIM:611560
Microphthalmia, Syndromic 12
Intestinal malrotation, Anophthalmia, Neonatal death, Microphthalmia, Cleft palate OMIM:615524
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... ORPHA:1106
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Polycystic kidney dysplasia, Polysyndactyly of hallux, Pectus c... OMIM:263520
Meckel Syndrome 13
Cerebellar hypoplasia, Flexion contracture, Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Thick corpus callosum, Postaxial hand polydactyly, Megalencephaly,... OMIM:615938
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndacty... ORPHA:139471
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Renal cyst, Epiphyseal stippling, Neonatal death OMIM:614870
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Agenesis of corpus callosum, High palate, Renal dy... OMIM:277170
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper li... OMIM:616362
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Tarp Syndrome
Clinodactyly, Neonatal death, Talipes equinovarus, Bilateral talipes equinovarus, High palate, Ce... OMIM:311900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Bardet-Biedl Syndrome 19
Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, Hy... OMIM:615996
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, High palat... OMIM:311200
Endocrine-Cerebroosteodysplasia
Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Fibular bowing, Barrel-shaped chest... OMIM:612651
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr... OMIM:613390
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Joubert Syndrome 16
Nephronophthisis, Encephalocele, Polydactyly, Renal cyst, Coloboma, Dandy-Walker malformation OMIM:614465
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Bell-shaped thorax, Protruding tongue, Death in childh... OMIM:214100
Branchiootorenal Syndrome 1
Congenital hip dislocation, Unilateral renal agenesis, Bifid uvula, Branchial fistula, Branchial ... OMIM:113650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Jeune Syndrome
Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ... ORPHA:474
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly OMIM:182940
Gillessen-Kaesbach-Nishimura Syndrome
Decreased skull ossification, Smooth philtrum, Narrow greater sciatic notch, Microcephaly, Ulnar ... OMIM:263210
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal sternum morphology, Horseshoe kidney, Nephroblastoma, Ar... ORPHA:314588
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones of the upper limbs, Encephalocele... ORPHA:2369
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Renal agenesis, Type B brachydactyly, Absent distal phalanges,... OMIM:120400
Syngap1-Related Developmental And Epileptic Encephalopathy
Wide mouth, Narrow mouth, Postaxial polydactyly, Microcephaly, Thin vermilion border, High palate... ORPHA:544254
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Molar tooth sig... ORPHA:166024
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Optic disc coloboma, Horseshoe kidney, Ankyl... OMIM:174300
Congenital Disorder Of Glycosylation, Type If
Cerebral atrophy, Renal cortical cysts, Death in infancy, Microcephaly, Thin vermilion border, Fl... OMIM:609180
Say Syndrome
Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Microcephaly, Proximal renal t... OMIM:181180
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, ... OMIM:615982
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Ren... ORPHA:2538
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Joint hypermobility, Postaxial p... OMIM:619185
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Branchial cyst, Renal agenesis, Long philtrum, ... OMIM:615583
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe OMIM:176305
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Renal dysplasia, Occipital ... OMIM:241800
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Walker-Warburg Syndrome
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Metatarsus valgus, Anopht... ORPHA:899
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Absent... OMIM:236680
Microhydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Multiple joint contractures, Agenesis of corpus cal... OMIM:605013
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Joubert Syndrome 5
Nephronophthisis, Occipital encephalocele, Retinal coloboma, Stage 5 chronic kidney disease, Rena... OMIM:610188
Coffin-Lowry Syndrome
Open mouth, Everted lower lip vermilion, High palate, Rectal prolapse, Short metacarpal, Hyperext... OMIM:303600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, High palate, Polycystic kidney dysplasia, Renal dysplasia, Tapered t... OMIM:608836
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Decreased calvarial ossification, Bowing of ... OMIM:619879
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Dandy-Walker malformation, Postaxial hand polydactyly ORPHA:1566
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Abnormality of the ureter, F... OMIM:200980
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H... OMIM:607361
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Postaxial h... OMIM:615937
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, Renal cyst, Ren... OMIM:615993
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Broad thumb, Broad hallux, Downturned corners of mouth, Ov... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... OMIM:615761
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Aganglionic m... ORPHA:85284
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Cleft palate OMIM:236110
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Nanophthalmos
Microphthalmia ORPHA:35612
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebe... OMIM:225790
Iniencephaly
Lissencephaly, Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Renal agenesis,... ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Campomelia, Cumming Type
Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormally ossified vertebrae, Abnorm... ORPHA:1318
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho... ORPHA:3270
Cerebrooculonasal Syndrome
Narrow palate, Cerebellar vermis hypoplasia, Downturned corners of mouth, Long philtrum, Anophtha... OMIM:605627
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Agenesis of corpu... OMIM:134780
Nanophthalmos 4
Microphthalmia OMIM:615972
Nephronophthisis 14
Cerebellar vermis hypoplasia, Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, A... OMIM:256520
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI OMIM:618763
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Overlapping toe, Postaxial polydactyly, Macular hypop... OMIM:613792
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Death in childhood, Hip ... OMIM:210710
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Pachygyria, Epiphyseal stippling, Single transverse palmar crease, Death in infan... OMIM:614866
Abruzzo-Erickson Syndrome
Iris coloboma, Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Abno... ORPHA:921
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Renal insufficiency, Abnormal morpho... ORPHA:971
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... OMIM:617967
Joubert Syndrome 40
Postaxial polydactyly, Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Narrow mouth, Crowded carpal bones, High palate, Dislocated radial h... OMIM:102500
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Death in childhood, Single transverse palmar crease... OMIM:214110
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Intrauterine growth retardation, Cerebellar hypoplasi... OMIM:616171
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Neonatal death, Microphthalmia, Anal atresia, Cleft lip, Hamartoma of t... OMIM:617925
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma, Hypospadias, Cleft palate OMIM:302905
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Long philtrum, Cerebral atrophy, Villous atrophy, Microcephaly, Polycystic ... OMIM:608776
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture of the 5th finger, Posta... OMIM:619562
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Broad hallux, Duplication of phalanx of hallux, Molar tooth sign on... OMIM:617127
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Arima Syndrome
Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Nephronophthisis, Chorioretinal colobom... OMIM:243910
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Abnormal hip bone morphology, Joint stiffness, Vesicou... ORPHA:1166
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus c... OMIM:305600
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Biemond Syndrome Type 2
Preaxial polydactyly, Coloboma, Hydrocephalus, Microphthalmia, Hypospadias ORPHA:141333
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Lissencephaly 8
Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar hypoplasia, Talipes equinovarus,... OMIM:617255
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypospadias, Renal dysplasia OMIM:615985
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:615181
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, 11 pairs of ribs, Anophthalmia, Agenesis of corpus callosum, Tracheoesophageal fis... ORPHA:77298
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Long phil... DECIPHER:81
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pectus carinatum, Small hand, Clinodactyly, Long philtrum, Thin upper lip vermilion, Perianal abs... OMIM:614684
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Hypoplasia of the brainstem, Microphthalmia OMIM:615771
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Clinodactyly, Partial duplication of thumb phalanx, Short ... OMIM:617926
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Basal ganglia calcification, Cerebral calcification, Talipes equinovarus, Partial absence of the ... OMIM:620371
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Abnormal co... OMIM:614576
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, High palate, Broad thumb, Short finger OMIM:300209
Rhyns Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Osteopenia, Small epiphyses, Ab... ORPHA:140976
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Long phil... OMIM:617895
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... OMIM:175700
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Coloboma, Microphthalmia, Cle... OMIM:600251
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Cavum septum pellucidum, Nephroblastoma, Polydactyly, Joint hypermobility, Smooth... OMIM:602501
Terminal Osseous Dysplasia
Toe clinodactyly, Iris coloboma, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg ... OMIM:300244
Microphthalmia, Syndromic 5
Anophthalmia, Joint hypermobility, Coloboma, Microphthalmia, Micropenis, Cleft palate, Optic nerv... OMIM:610125
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia, Hypoplasia of the corpus callos... ORPHA:411986
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Small hand, Abnormality of the dentition, Abnormal cortical gyration, Renal dysplasi... OMIM:300968
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Abnormal enchondral ossification,... ORPHA:2635
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Gingival overgrowth, Microcephaly, Pec... ORPHA:2013
Thomas Syndrome
Multicystic kidney dysplasia, Cleft upper lip, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Cerebellar vermis hypoplasia, Red-brown urine, Dicarboxylic aciduria, Polymi... ORPHA:228308
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Abnormality of the urinary system, Cutaneous finger syndactyly, 2-3 toe syndactyl... DECIPHER:46
Phelan-Mcdermid Syndrome
Dental malocclusion, Long philtrum, Widely spaced teeth, Abnormal periventricular white matter mo... OMIM:606232
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, Clinodactyly, I... OMIM:618348
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Wide mouth, Bilateral single transverse palmar creases, Hi... ORPHA:1703
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Molar tooth sign on MRI... OMIM:607131
Meckel Syndrome, Type 9
Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth, Occipital encephalocele OMIM:614209
Solitary Median Maxillary Central Incisor
Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Solitary median maxillary central ... OMIM:147250
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Polymicrogyria, Hypoplasia of the corpus callosum, Thoracic scoliosis, Po... OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypop... OMIM:613155
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Limited elbow movement, High palate, Slender finger,... ORPHA:221120
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Joint hypermobility, Arachnoda... OMIM:619721
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Ho... ORPHA:945
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Megalencephaly, Thora... OMIM:600325
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cerebellar vermis hypoplasia, Nephronophthisis, Thoracic hypoplasia, Thor... OMIM:615630
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition... OMIM:157900
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Genu valgum, Long thorax, Postaxial polydactyly, Limb undergrowth, Short... OMIM:619142
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Anteriorly placed anus, Agenesis of corpu... OMIM:619980
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Anencephaly, Short philtrum, Aplasia/Hypoplasia o... ORPHA:96176
Tarp Syndrome
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... ORPHA:2886
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Arachnodactyly, Microcephaly, Long toe, Large hands, Cleft palate, Thoracic kyphosis OMIM:300263
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia, Microphthalmia ORPHA:291
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Abnormal metacarpal morphology, Microphthalmia, Absent radius, High palate, Hypospa... OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Occipital encephalocele, Hypoplasia of the brainstem, Type II lisse... OMIM:615287
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Death in infancy, Neonatal death, Cerebellar hypoplasia, Microphthalmia, ... OMIM:613730
Mpdu1-Cdg
Thin vermilion border, Renal cortical cysts ORPHA:79323
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... OMIM:220500
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... ORPHA:2117
Thoracoabdominal Syndrome
Renal agenesis, Cleft upper lip, Anencephaly, Hydrocephalus, Hypospadias, Cleft palate OMIM:313850
Holoprosencephaly
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Anophthalmia, Encephalocele, M... ORPHA:2162
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... ORPHA:93320
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Joubert Syndrome 32
Abnormal cerebellum morphology, Postaxial foot polydactyly, Molar tooth sign on MRI, Postaxial ha... OMIM:617757
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Overlapping toe, Open mouth, Lipomyelomen... OMIM:616580
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Hydronephrosis, ... OMIM:602418
Distal Deletion 12Q
Overlapping toe, Large hands, Polycystic kidney dysplasia, Duodenal atresia, Ectopic kidney, High... ORPHA:96149
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Hypoplasia of the corpus ... OMIM:620511
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Renal cyst, Duplication of phalanx of hallux, Stillbirt... OMIM:263630
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Downturned corners of mouth, Long philtrum, Renal cortical cysts, Vesicoureteral reflux, Thin upp... OMIM:618548
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Chorioretinal coloboma, Cleft upper lip, Hematuria, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Brachydactyly, Molar tooth sign on MRI,... OMIM:300804
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Absent septum pellucid... OMIM:601357
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Postaxial polydactyly, Renal corticomedullary cysts,... OMIM:219730
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Thoracic h... OMIM:256050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Joint contracture of the hand, Osteopenia, Broad femoral neck, Delayed eruption of t... OMIM:612350
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Stillbirth, Thoracic hypoplasia, Umbilical hernia, Advanced t... OMIM:269250
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, Clinodactyly, I... OMIM:616730
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Red-brown urine, Polymicrogyria, Pachygyria, Cerebral calcification... ORPHA:157
Nephronophthisis 15
Cerebellar vermis hypoplasia, Nephronophthisis, Polydactyly OMIM:614845
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Abnormal cortical gyration, Cessation of head growth, Cerebral cortical atrophy... OMIM:617527
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Talipes equinovarus... OMIM:225500
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... OMIM:615777
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Ulbright-Hodes Syndrome
Thin ribs, Fibular aplasia, Narrow mouth, Humeroradial synostosis, Talipes equinovarus, Aplasia/H... ORPHA:3404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar cyst, Cereb... OMIM:613153
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndac... OMIM:607932
Acropectoral Syndrome
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... OMIM:605967
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Nephronophthisis, Sandal gap, Narrow chest, Widely spaced teeth, ... OMIM:614099
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Triploidy
Iris coloboma, Narrow chest, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intest... ORPHA:3376
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Narrow mouth, Hypoplasia of the corpus callosum, Hypospadias, Cone-shaped epiphysis, Short toe, C... OMIM:618659
Coach Syndrome 1
Unilateral renal agenesis, Cerebellar vermis hypoplasia, Nephronophthisis, Occipital encephalocel... OMIM:216360
Stromme Syndrome
Cerebellar vermis hypoplasia, Stillbirth, Bilateral renal hypoplasia, Preaxial polydactyly, Intes... OMIM:243605
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Microphthalmia, Anal atresia, ... OMIM:607323
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Postaxial hand polydactyly, Superior cerebellar dysp... OMIM:617622
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Microcephaly, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad m... OMIM:618724
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, Polymicrogyria, 11... OMIM:264480
Trichohepatoenteric Syndrome 1
Galactosuria, Bifid uvula, Long philtrum, Avascular necrosis of the capital femoral epiphysis, Vi... OMIM:222470
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Macular coloboma, Contracture of the distal... OMIM:216800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Abnormality of the dentition, Nephrocalcinosis, Osteopenia, Hydroure... OMIM:615398
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Bilateral single transverse palmar cre... ORPHA:3033
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Elbow dislocation, Cerebral atrophy, Small epiphyses, Hypoplasia of t