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 HOM E15.5 0.00
microcephaly Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
polydactyly Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
microphthalmia Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
anophthalmia Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
preweaning lethality, complete penetrance Dlg5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
syndactyly Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
hemorrhage Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
spina bifida Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
anophthalmia Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
spina bifida Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
polydactyly Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
microphthalmia Dlg5tm1b(EUCOMM)Wtsi HOM E15.5 0.00
hydrocephaly Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal brain morphology Dlg5tm1b(EUCOMM)Wtsi HET Early adult 0.00
hemorrhage Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00
syndactyly Dlg5tm1b(EUCOMM)Wtsi HET E15.5 0.00

Download data as:  TSV  XLS

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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 0.0%
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain Ambiguous
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
meckel's cartilage Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pericardium Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
vibrissa 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

95 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 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
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly OMIM:233270
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... ORPHA:3246
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... OMIM:174200
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... OMIM:613885
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mmep Syndrome
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia ORPHA:291
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... OMIM:600384
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:616570
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... OMIM:164180
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... OMIM:615771
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Frontal Encephalocele
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... OMIM:211960
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... ORPHA:139471
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation... OMIM:602200
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... OMIM:206920
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation OMIM:300982
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... ORPHA:3265
Pineocytoma
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration ORPHA:251912
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Microcephaly-Cardiomyopathy
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Increased CSF lactate, Abnormal medullary pyramid morphology, Increased serum ... ORPHA:79243
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Cach Syndrome
Limb ataxia, T2 hypointense thalamus, Nonketotic hyperglycinemia, Atrophy/Degeneration affecting ... ORPHA:135
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... ORPHA:3268
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... ORPHA:1528
Joubert Syndrome 3
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Enlarged fossa... OMIM:608629
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... ORPHA:380
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger ORPHA:238446
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... OMIM:603194
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... OMIM:615665
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... OMIM:611134
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Microphthalmia ORPHA:141333
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:218670
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Hypospadias, Lateral ventricle dilatation OMIM:618330
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... OMIM:606744
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Renal cyst OMIM:614870
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio... OMIM:620315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... OMIM:613155
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... ORPHA:2839
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... OMIM:617255
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... ORPHA:2189
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gait disturbance, Urinary incontinence, Lateral ventricle... OMIM:221770
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... OMIM:182230
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Schisis Association
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida ORPHA:63862
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Ataxia, Lateral ventricle di... OMIM:607596
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Bardet-Biedl Syndrome 22
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly OMIM:617119
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... ORPHA:1327
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal... OMIM:615993
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... OMIM:616171
Joubert Syndrome 16
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Renal cyst OMIM:614465
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia OMIM:614830
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Difficulty walking, Decreased glomerular filtration rate, Gait imbala... ORPHA:488627
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... ORPHA:1553
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating pipecolic acid concentration, Elevated circulating alpha-amin... OMIM:266100
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2117
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Inability to walk, Lateral ventricle dilatation OMIM:613443
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Lateral ventricle dilatation ORPHA:306669
Masa Syndrome
Hydrocephalus, Shuffling gait, Short stature, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dandy-Walker malformation, Vesicoureteral reflux, Dilated fo... ORPHA:3078
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Lateral ventricle dilatation OMIM:618266
Slc35A2-Cdg
Transient nephrotic syndrome, Inability to walk, Increased circulating thyroglobulin concentratio... ORPHA:356961
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Temtamy Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... ORPHA:1777
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... OMIM:300863
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... OMIM:136760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly ORPHA:324416
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Lateral ventricle dilatation OMIM:615889
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Dilated fourth ventricle, Lateral ventricle dilatation, Intrauterine growth retardat... OMIM:617751
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... OMIM:175700
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Abnormal pons morphology ORPHA:77299
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Lateral ventricle dilatation OMIM:617668
Martsolf Syndrome 2
Short stature, Lateral ventricle dilatation OMIM:619420
Microphthalmia, Syndromic 8
Microcephaly, Microphthalmia, Split foot OMIM:601349
Paganini-Miozzo Syndrome
Urinary incontinence, Hyperalaninemia, Lateral ventricle dilatation OMIM:301025
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Braddock-Carey Syndrome 2
Microcephaly, Microphthalmia, Clinodactyly OMIM:619981
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Lissencephaly 4
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:614019
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele, Ataxia, Molar tooth sign on MRI OMIM:617562
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Joubert Syndrome 7
Molar tooth sign on MRI, Nephronophthisis, Encephalocele, Brainstem dysplasia, Renal cyst, Ataxia... OMIM:611560
Glutaric Acidemia I
Glutaric aciduria, Hydrocephalus, Elevated circulating glutaric acid concentration, Lateral ventr... OMIM:231670
Joubert Syndrome 4
Abnormal renal medulla morphology, Molar tooth sign on MRI, Nephronophthisis, Elongated superior ... OMIM:609583
Nanophthalmos
Microphthalmia ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Short stature, Abnormal brainstem morphology ORPHA:1532
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain... ORPHA:300573
Walker-Warburg Syndrome
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... ORPHA:899
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias ORPHA:250994
Cofs Syndrome
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of... ORPHA:1466
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk, Renal cyst OMIM:614970
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Kleeblattschaedel
Hydrocephalus OMIM:148800
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
17Q12 Microduplication Syndrome
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly ORPHA:261272
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Beta-alaninuria, Elevated urinary ... OMIM:614105
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Elevated circulating 2-trans,4-cis-decadienoylcarnitine conce... OMIM:616034
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Later... OMIM:600721
Hypomelanosis Of Ito
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... OMIM:300337
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Hydronephrosis, Agenesis of corpus callosum OMIM:617127
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidney dise... OMIM:617056
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... OMIM:169550
Trisomy 1Q
Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl... ORPHA:261344
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... OMIM:614814
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... OMIM:300887
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Rhizomelic leg shortening, Hypospadias, Elongat... ORPHA:397715
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Broad palm, Macrocephaly, Spina bifida OMIM:620439
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Inability to walk, Lateral ventricle dilatation OMIM:615716
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Hyperglycinemia, Hyposerinemia, Lateral ventricle dilatation ORPHA:284417
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Renal cyst, Agenesis of corpus callosum, Intrau... OMIM:614815
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Nephronophthisis 18
Nephronophthisis, Hydrocephalus, Thickened glomerular basement membrane, Renal tubular atrophy, S... OMIM:615862
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa... OMIM:619091
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Fountain Syndrome
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co... ORPHA:3219
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... OMIM:600118
Edinburgh Malformation Syndrome
Hydrocephalus, Neonatal hyperbilirubinemia OMIM:129850
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Growth delay, Intrauterine gr... ORPHA:488635
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Dandy-Walker malformation, Gait ataxia, Hypoplasia of the pons, Lateral ventri... OMIM:618606
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Hyperammonemia, Lateral ventricle dila... OMIM:610015
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Coach Syndrome 3
Molar tooth sign on MRI, Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy... OMIM:619113
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callo... OMIM:618736
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb OMIM:617244
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Scissor gait, Lateral ventricle dilatation ORPHA:363654
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia ORPHA:3032
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly OMIM:615877
Curry-Jones Syndrome
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... OMIM:601707
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Intellectual Developmental Disorder, Autosomal Dominant 56
Pontocerebellar atrophy, Inability to walk, Broad-based gait, Ataxia, Lateral ventricle dilatation OMIM:617854
Aminopterin Syndrome Sine Aminopterin
Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Solitary Median Maxillary Central Incisor
Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ... OMIM:251270
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... OMIM:616038
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Hypospadias, Anencephaly, Dandy-Walker malforma... OMIM:614175
Distal Deletion 10Q
Postnatal growth retardation, Acute kidney injury, Spina bifida occulta, Vesicoureteral reflux, E... ORPHA:96148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... OMIM:615181
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... OMIM:607361
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... OMIM:207950
Cog5-Cdg
Urinary incontinence, Atrophy/Degeneration affecting the brainstem, Neurogenic bladder, Truncal a... ORPHA:263487
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... ORPHA:163966
Pierpont Syndrome
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... ORPHA:487825
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep... OMIM:603387
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Pseudo-Torch Syndrome 2
Ventriculomegaly, Abnormal renal corticomedullary differentiation, Lateral ventricle dilatation OMIM:617397
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda... OMIM:300049
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance ORPHA:26
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... ORPHA:3378
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hydrocephalus, ... OMIM:609757
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis OMIM:274265
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s... OMIM:619694
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Fried Syndrome
Hydrocephalus, Gait disturbance ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... OMIM:613153
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Short stature, Ataxia, Hypoplasia of the brainstem OMIM:618174
Joubert Syndrome 6
Molar tooth sign on MRI, Nephronophthisis, Elongated superior cerebellar peduncle, Dilated fourth... OMIM:610688
Bilateral Generalized Polymicrogyria
Short stature, Lateral ventricle dilatation, Growth delay ORPHA:208447
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Micropenis, Lateral ventricle dilatation, Hyperalaninemia OMIM:619847
Moebius Syndrome