Gene Summary

Name:
discs large MAGUK scaffold protein 5
Synonyms:
4933429D20Rik

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
microcephaly Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
microphthalmia Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
polydactyly Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
spina bifida Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
preweaning lethality, complete penetrance Dlg5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
anophthalmia Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
hemorrhage Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
spina bifida Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
syndactyly Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal brain morphology Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
microphthalmia Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
polydactyly Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
syndactyly Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
microcephaly Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
anophthalmia Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
hydrocephaly Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
hemorrhage Dlg5tm1b(EUCOMM)Wtsi HET 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  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
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
Heart atrium N/A heterozygote 100% (2 of 2)
Heart atrium N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (2 of 2)
Axial skeleton N/A homozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A homozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Outer ear N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote 50% (1 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forearm N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A homozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Gut N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote 50% (1 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart ventricle N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A homozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Intestine N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lower leg N/A homozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote 100% (2 of 2)
Meckel's cartilage N/A heterozygote 0.0% (0 of 2)
Meckel's cartilage N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nasal septum N/A homozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote 100% (2 of 2)
Notochord N/A heterozygote Ambiguous
Notochord N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Oral cavity N/A homozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Outflow tract N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
Chorioallantoic placenta N/A heterozygote Not available
Chorioallantoic placenta N/A homozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A homozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A homozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skeleton N/A homozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spinal cord N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A homozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A homozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Upper arm N/A heterozygote 100% (2 of 2)
Upper arm N/A homozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Upper leg N/A homozygote 100% (2 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pericardium 1.82% (1 of 55)
placenta 16.67% (7 of 42)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

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

95 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Dlg5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Dlg5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly OMIM:233270
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... ORPHA:64754
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... OMIM:613885
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... OMIM:616570
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... OMIM:600384
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... OMIM:164180
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... ORPHA:945
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... ORPHA:93320
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... OMIM:211960
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... OMIM:615771
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Renal agenesis, Ectopic kidney, Ho... OMIM:602200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... ORPHA:139471
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... OMIM:610140
Pineocytoma
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration ORPHA:251912
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly OMIM:251220
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation OMIM:300982
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Inability to walk, Lateral ventricle dilatation, Ataxia, Abnormality of medulla... ORPHA:79243
Cach Syndrome
Lateral ventricle dilatation, Truncal ataxia, Limb ataxia, Atrophy/Degeneration affecting the bra... ORPHA:135
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... ORPHA:380
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... ORPHA:1113
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Joubert Syndrome 3
Molar tooth sign on MRI, Lateral ventricle dilatation, Elongated superior cerebellar peduncle, St... OMIM:608629
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia, Abnormal thumb morphology OMIM:614082
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... ORPHA:1528
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... OMIM:603194
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
15Q11Q13 Microduplication Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... OMIM:611134
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... OMIM:218670
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... OMIM:615665
Meckel Syndrome, Type 5
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... OMIM:611561
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly ORPHA:141333
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microphthalmia, Microcephaly ORPHA:291
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Band Heterotopia
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius ORPHA:2476
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Short stature, Lateral ventricle dilatation OMIM:618330
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly OMIM:614870
Anophthalmia Plus Syndrome
Spina bifida, Deviation of finger, Anophthalmia ORPHA:1104
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... OMIM:603546
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... OMIM:602501
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... ORPHA:2839
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... ORPHA:166024
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Abnormal upper motor neuron morphology, Gait disturbance, Lateral ventricle... OMIM:221770
Seckel Syndrome 2
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia OMIM:606744
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Hydrolethalus
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... ORPHA:2189
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... ORPHA:1617
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Bardet-Biedl Syndrome 16
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal... OMIM:615993
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... OMIM:182230
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the ventral pons, Lateral ventricle dilatation, Degeneration of anterior horn cells... OMIM:607596
Lissencephaly 8
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... OMIM:617255
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... OMIM:613155
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... ORPHA:1327
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia OMIM:614830
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Renal cyst, Nephronophthisis, Dandy-Walker malformation OMIM:614465
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Czeizel-Losonci Syndrome
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... ORPHA:2437
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Bardet-Biedl Syndrome 22
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly OMIM:617119
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... OMIM:225280
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum OMIM:604213
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia, Microcephaly ORPHA:3469
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Gait imbalance, Ventriculomegaly, Lateral ventricle dilatation, Nep... ORPHA:488627
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... ORPHA:1553
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Inability to walk, Lateral ventricle dilatation OMIM:613443
Masa Syndrome
Shuffling gait, Ventriculomegaly, Short stature, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... ORPHA:2117
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Inability to walk, Lateral ventri... ORPHA:356961
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Dilated fourth ventricle, Lateral ventricle dilatation, Severe postnatal g... ORPHA:3078
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Lateral ventricle dilatation OMIM:618266
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Lateral ventricle dilatation ORPHA:306669
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth ORPHA:324416
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... OMIM:136760
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... ORPHA:1777
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... ORPHA:1120
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... ORPHA:65759
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Lateral ventricle dilatation OMIM:615889
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypoplasia of the brainstem, Lateral ventricle dilatation, Hypospadias,... OMIM:617751
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Martsolf Syndrome 2
Short stature, Lateral ventricle dilatation OMIM:619420
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation ORPHA:77299
Microphthalmia, Syndromic 8
Split foot, Microphthalmia, Microcephaly OMIM:601349
Lissencephaly 4
Short stature, Growth delay, Agenesis of corpus callosum, Colpocephaly OMIM:614019
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Abnormal renal medulla morpholog... OMIM:609583
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly OMIM:274270
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Microcephaly OMIM:619981
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia, Molar tooth sign on MRI, Ataxia OMIM:617562
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... ORPHA:899
Nanophthalmos
Microphthalmia ORPHA:35612
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Abnormal brainstem morphology, Hypoplasia of the pons, Lateral ventr... ORPHA:300573
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Kleeblattschaedel
Hydrocephalus OMIM:148800
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Paganini-Miozzo Syndrome
Urinary incontinence, Hyperalaninemia, Lateral ventricle dilatation OMIM:301025
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... ORPHA:1106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Joubert Syndrome 7
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disea... OMIM:611560
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus ORPHA:250994
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Hyperalaninemia, Increased serum pyruvate, Lateral ventricle dilatation OMIM:617668
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... ORPHA:1466
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia ORPHA:2440
Epilepsy, Pyridoxine-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Short stature, Hydrocephalus, Ataxia ORPHA:1532
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Microcephaly ORPHA:63862
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Glutaric Acidemia I
Lateral ventricle dilatation, Ketonuria, Choreoathetosis, Hydrocephalus, Elevated circulating glu... OMIM:231670
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Ventriculomegaly, Agenesis of corpus callosum, Hydronephrosis OMIM:617127
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... ORPHA:261344
Adams-Oliver Syndrome 3
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... OMIM:614814
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Hypomelanosis Of Ito
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... OMIM:300337
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat... OMIM:617056
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... ORPHA:1908
Joubert Syndrome 20
Renal cyst, Molar tooth sign on MRI, Inability to walk OMIM:614970
Nephronophthisis 18
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hydrocephalu... OMIM:615862
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... OMIM:618447
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Nanophthalmos 4
Microphthalmia OMIM:615972
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Anencephaly, Renal cyst, Hypospadias, Occipita... OMIM:614175
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... OMIM:169550
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger OMIM:618725
Joubert Syndrome 18
Molar tooth sign on MRI, Arrhinencephaly, Renal cyst, Horseshoe kidney, Occipital encephalocele, ... OMIM:614815
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Inability to walk, Lateral ventricle dilatation OMIM:615716
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... OMIM:300863
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, D-2-hydroxyglutaric aciduria, Glutaric aciduria, Lateral ventricle dilatation OMIM:600721
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric ... OMIM:614105
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Renal... ORPHA:397715
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia ORPHA:411986
Fountain Syndrome
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... ORPHA:3219
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ... OMIM:618736
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Lateral ventricle dilatation, Ataxia, Pontocerebellar atrophy, Broad-based gait OMIM:617854
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Molar tooth sign on MRI, Stage 5 chronic kidn... OMIM:619113
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... OMIM:600118
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyperglycinemia, Hyposerinemia, Lateral ventricle dilatation, Intrauterine growth retardation ORPHA:284417
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... OMIM:619091
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Gait imbalance, Abnormal lateral ventricle morphology, Growth delay, Intrauterine gr... ORPHA:488635
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Solitary Median Maxillary Central Incisor
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly OMIM:147250
Curry-Jones Syndrome
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... OMIM:601707
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Pontocerebellar Hypoplasia, Type 13
Gait ataxia, Inability to walk, Lateral ventricle dilatation, Hypoplasia of the pons, Dandy-Walke... OMIM:618606
Glutamine Deficiency, Congenital
Hypoglutaminemia, Lateral ventricle dilatation, Subependymal cysts, Hyperammonemia, Decreased CSF... OMIM:610015
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia ORPHA:3032
X-Linked Parkinsonism-Spasticity Syndrome
Scissor gait, Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... OMIM:600325
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia ORPHA:261272
Orofaciodigital Syndrome Xviii
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... OMIM:251270
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand DECIPHER:46
Neu-Laxova Syndrome 2
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... OMIM:616038
Summitt Syndrome
Syndactyly OMIM:272350
Distal Monosomy 10Q
Vesicoureteral reflux, Lateral ventricle dilatation, Short stature, Acute kidney injury, Ataxia, ... ORPHA:96148
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... OMIM:607361
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... OMIM:207950
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Cog5-Cdg
Urinary incontinence, Lateral ventricle dilatation, Neurogenic bladder, Truncal ataxia, Short sta... ORPHA:263487
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum ORPHA:63260
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance ORPHA:26
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... OMIM:175700
Joubert Syndrome 6
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... OMIM:610688
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Hypoplasia of the brainstem, Renal dysplasia, Multinucleated neuron, Renal cys... OMIM:236500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... OMIM:615181
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... ORPHA:3378
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... OMIM:603387
Periventricular Nodular Heterotopia 1
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... OMIM:300049
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... ORPHA:2492
Pierpont Syndrome
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... ORPHA:487825
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation OMIM:274265
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Ventriculomegaly OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... OMIM:613153
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Fried Syndrome
Hydrocephalus, Gait disturbance ORPHA:85335
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Bilateral Generalized Polymicrogyria
Short stature, Growth delay, Lateral ventricle dilatation ORPHA:208447
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating thyroid-stimulating hormone concentration, El... OMIM:617872
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... ORPHA:3210
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Gait disturbance ORPHA:3270
Moebius Syndrome
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... OMIM:157900
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Hyperalaninemia, Micropenis, Lateral ventricle dilatation OMIM:619847
Developmental Delay With Variable Neurologic And Brain Abnormalities