Gene Summary

Name:
3-phosphoglycerate dehydrogenase
Synonyms:
3-PGDH,  PGAD,  PGD,  SERA,  A10,  3PGDH,  PGDH

IMPC Data Collections

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
abnormal blood vessel morphology Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal visceral yolk sac morphology Phgdhtm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal embryo size Phgdhtm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal head size Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
unresponsive to tactile stimuli Phgdhtm1b(KOMP)Wtsi HET E18.5 0.00
edema Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
embryonic growth retardation Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
microphthalmia Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
embryonic growth retardation Phgdhtm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal vitelline vasculature morphology Phgdhtm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal embryo size Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
hemorrhage Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal hindbrain morphology Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
edema Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
decreased food intake Phgdhtm1b(KOMP)Wtsi HET Early adult 1.33×10-06
prenatal lethality Phgdhtm1b(KOMP)Wtsi HOM   E18.5 0.00
abnormal embryo turning Phgdhtm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic growth retardation Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal embryo size Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
no spontaneous movement Phgdhtm1b(KOMP)Wtsi HET E18.5 0.00
hemorrhage Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal head shape Phgdhtm1b(KOMP)Wtsi HOM E15.5 0.00
preweaning lethality, complete penetrance Phgdhtm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased fluid intake Phgdhtm1b(KOMP)Wtsi HET Early adult 3.12×10-05
abnormal embryo development Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal eye morphology Phgdhtm1b(KOMP)Wtsi HOM E12.5 0.00
decreased respiratory quotient Phgdhtm1b(KOMP)Wtsi HET Early adult 2.25×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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 Ambiguous
Heart atrium N/A homozygote Ambiguous
Axial skeleton N/A heterozygote Ambiguous
Axial skeleton N/A homozygote Ambiguous
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Central nervous system ganglion N/A homozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Outer ear N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forearm N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Gut N/A heterozygote Ambiguous
Gut N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote Ambiguous
Head mesenchyme N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart ventricle N/A heterozygote Ambiguous
Heart ventricle N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A homozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Inner ear N/A homozygote Ambiguous
Intestine N/A heterozygote Ambiguous
Intestine N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lower leg N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Meckel's cartilage N/A heterozygote Ambiguous
Meckel's cartilage N/A homozygote Ambiguous
Mesonephros of female N/A heterozygote Ambiguous
Mesonephros of female N/A homozygote Ambiguous
Mesonephros of male N/A heterozygote Ambiguous
Mesonephros of male N/A homozygote Ambiguous
Metanephros N/A heterozygote Ambiguous
Metanephros N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Nasal septum N/A heterozygote Ambiguous
Nasal septum N/A homozygote Ambiguous
Nose N/A heterozygote Ambiguous
Nose N/A homozygote Ambiguous
Notochord N/A heterozygote Ambiguous
Notochord N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Outflow tract N/A heterozygote Ambiguous
Outflow tract N/A homozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
Pancreas N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Pharynx N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Chorioallantoic placenta N/A homozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote Ambiguous
Rib pre-cartilage condensation N/A homozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skeleton N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Spinal cord N/A homozygote Ambiguous
Stomach N/A heterozygote Ambiguous
Stomach N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Ambiguous
Thoracic vertebral cartilage condensation N/A homozygote Ambiguous
Tongue N/A heterozygote Ambiguous
Tongue N/A homozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trachea N/A homozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Trunk mesenchyme N/A homozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A homozygote Ambiguous
Umbilical vein embryonic part N/A heterozygote Ambiguous
Umbilical vein embryonic part N/A homozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper arm N/A homozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Upper leg N/A homozygote Ambiguous
Urinary system N/A heterozygote Ambiguous
Urinary system N/A homozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous
Vibrissa N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)

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
cranium 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
inner ear Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
meckel's cartilage Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
stomach Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

22 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

4 Images

Human diseases caused by Phgdh mutations

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

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

The table below shows human diseases associated to Phgdh by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Intrauterine growth retardation, Ventriculomegaly... OMIM:256520
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Microcephaly, Short stature, Umbilical hernia, Intrauterine growth retardation, Primary microcephaly ORPHA:79351
Phosphoglycerate Dehydrogenase Deficiency
Adducted thumb OMIM:601815

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly, Syndactyly OMIM:615938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:604213
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Microcephaly, Intrauterine growth retardation, Cerebellar hypoplasia, Edema OMIM:616570
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ... ORPHA:380
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Gombo Syndrome
Microcephaly, Microphthalmia, Delayed puberty OMIM:233270
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Craniotelencephalic Dysplasia
Microphthalmia, Craniosynostosis, Septo-optic dysplasia, Microcephaly, Frontal bossing, Cerebella... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Ventriculomegaly, Hydrocephalus, Postaxial hand polydac... OMIM:175700
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia, Microcephaly, Short stature, Growth delay ORPHA:2528
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Cerebellar atrophy, Hypoplasia of the pons, Microcephaly, Short stature, Intraute... OMIM:616171
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Agenesis of corpus callosum, Ventriculome... OMIM:614120
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hyperextensibility of the finger joints, Cerebellar atroph... ORPHA:488635
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly ORPHA:294975
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Craniotelencephalic Dysplasia
Microphthalmia, Craniosynostosis, Optic nerve hypoplasia, Cerebellar hypoplasia, Frontal encephal... OMIM:218670
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Gómez-López-Hernández Syndrome
Brachycephaly, Turricephaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Short ... ORPHA:1532
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology ORPHA:2432
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Adducted thumb, Spina bifida occulta, Cerebellar vermis hypoplasia, Single transv... OMIM:618291
Cofs Syndrome
Microphthalmia, Short stature, Microcephaly, Intrauterine growth retardation, Aplasia/Hypoplasia ... ORPHA:1466
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Dandy-Wal... OMIM:616602
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Microphthalmia, Encephalocele, Coronal craniosynostosis, Frontal bossing, Agenesis... ORPHA:228390
Cleidocranial Dysplasia, Recessive Form
Brachycephaly, Severe short stature OMIM:216330
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Bradycardia, Microcephaly, Flat occiput ORPHA:2898
Non-Distal Duplication 10Q
Brachycephaly, Microcephaly, Frontal bossing, Aplasia/Hypoplasia affecting the eye, Short stature ORPHA:1695
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Dandy-Wal... OMIM:618736
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Alg13-Cdg
Abnormal lateral ventricle morphology, Adducted thumb ORPHA:324422
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly ORPHA:64754
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Microcephaly ORPHA:291
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Lateral ventricle dilatation, Cerebellar hypoplasia, Overlapping fingers, Tal... OMIM:618266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cerebellar vermis hypoplasia, Cardiomyopathy, Cerebellar dysplasia, Microcephaly,... OMIM:613155
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Lateral ventricle dilatati... OMIM:602200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... OMIM:236500
Seckel Syndrome 2
Microphthalmia, Cerebellar calcifications, Microcephaly, Short stature, Growth delay, Heart murmu... OMIM:606744
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Dysgenesis of the cerebellar vermis, Patent ductus arteriosus, Cerebellar vermis h... OMIM:617751
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Polydactyly, Syndactyly OMIM:602501
Adenylosuccinate Lyase Deficiency
Microcephaly, Flat occiput, Brachycephaly ORPHA:46
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Microphthalmia, Primary microcephaly OMIM:615771
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Cerebellar atrophy, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:616034
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... OMIM:101600
Lissencephaly 8
Occipital encephalocele, Microphthalmia, Retrocerebellar cyst, Microcephaly, Cerebellar hypoplasia OMIM:617255
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Nephronophthisis 9
Polydipsia OMIM:613824
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Cerebellar malformation, Microphthalmia ORPHA:324416
Adams-Oliver Syndrome 2
Hydrocephalus, Single transverse palmar crease, Absent distal phalanges, Retrocerebellar cyst, Sh... OMIM:614219
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... ORPHA:93258
Pierpont Syndrome
Brachycephaly, Microphthalmia, Microcephaly, Short stature, Chiari malformation OMIM:602342
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Pierpont Syndrome
Chiari malformation, Microphthalmia, Primary microcephaly, Brachycephaly ORPHA:487825
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia, Growth delay OMIM:278780
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Finger syndactyly, Foot polydactyly, Hand polydactyly, Chiari malformation, Toe sy... ORPHA:60040
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Epiphyseal stippling OMIM:614870
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Hartsfield Syndrome
Intrauterine growth retardation, Craniosynostosis, Microphthalmia, Encephalocele ORPHA:2117
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand... OMIM:611134
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Microphthalmia, Growth delay OMIM:274270
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Microcephaly, Short stature, Umbilical hernia, Intrauterine growth retardation OMIM:615834
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Microcephaly, Cerebellar atrophy, Short stature, Brachycephaly ORPHA:320385
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy,... ORPHA:370959
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
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Microcephaly, Frontal bossing, Short stature, Umbilical hernia, Intrauterine growt... OMIM:600325
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia, Microcephaly, Ascites ORPHA:858
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ... OMIM:207950
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, Pericardial e... OMIM:613885
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Dysgenesis of the cerebellar vermis, Colpocep... ORPHA:397715
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly, Talipes equinovarus ORPHA:401815
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Hydrocephalus, Dis... ORPHA:2839
Ring Chromosome 21 Syndrome
Narrow palm, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, Progressive microcephaly, Cerebellar atrophy, Hypoplasia of the pons, Short statur... OMIM:608027
Bresek Syndrome
Plagiocephaly, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Growth delay, Neonatal death... ORPHA:85284
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E... ORPHA:2211
Nanophthalmos
Microphthalmia ORPHA:35612
Frontonasal Dysplasia 2
Brachycephaly, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, Parietal foramina, Mi... OMIM:613451
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Warburg Micro Syndrome 1
Microphthalmia, Cerebellar vermis hypoplasia, Microcephaly, Short stature, Cerebellar hypoplasia OMIM:600118
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Cerebellar hypoplasia, Microphthalmia, Short stature OMIM:251270
Rhombencephalosynapsis
Polydactyly, Hydrocephalus, Abnormal dentate nucleus morphology, Finger syndactyly, Short phalanx... ORPHA:59315
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Plagiocephaly, Prominent occiput ORPHA:1665
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Brachycephaly OMIM:620200
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... ORPHA:93259
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Brachycephaly, Hypertrophic cardiomyopathy, Microcephaly, Short sta... OMIM:300590
Teratoma, Pineal
Polydipsia OMIM:273120
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Curry-Jones Syndrome
Chiari type I malformation, Triphalangeal hallux, Lipomyelomeningocele, Broad thumb, Duplication ... OMIM:601707
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Microphthalmia, Polyhydramnios, Patent ductus arteriosus ORPHA:2547
Achondrogenesis, Type Ii
Brachycephaly, Stillbirth, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb short sta... OMIM:200610
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Mmep Syndrome
Microcephaly, Microphthalmia ORPHA:3434
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Patent ductus arteriosus, Umbilical hernia, Chiari malformation, Cra... ORPHA:171839
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Dilated four... OMIM:613443
Pentasomy X
Delayed puberty, Plagiocephaly, Microcephaly, Short stature, Patent ductus arteriosus ORPHA:11
Developmental And Epileptic Encephalopathy 1
Microcephaly, Plagiocephaly, Microphthalmia, Growth delay OMIM:308350
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterine growth retardation, Dilated cardiomyop... ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Microphthalmia, Optic nerve hypoplasia, Cerebellar dysplasia, Hypoplasia of the ... OMIM:615181
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:195
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia, Polyhydramnios ORPHA:3469
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Short stature, Intrauterine growth retardation, Craniosynostosis, Ol... ORPHA:2145
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... OMIM:612651
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Degeneratio... OMIM:607596
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Brachydactyly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Brachycephaly, Flat occiput, Microcephaly, Short stature, Growth de... OMIM:613792
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia, Short stature OMIM:300915
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ... OMIM:613154
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Chiari type I malformation ORPHA:459074
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Potocki-Shaffer Syndrome
Delayed puberty, Parietal foramina, Hypertension, Brachycephaly ORPHA:52022
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Chiari type I malformation, Brachyturricephaly, Short stature, Frontal bossing, Ab... OMIM:218350
Familial Cold Urticaria
Polydipsia ORPHA:47045
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia, Cloverleaf skull, Frontal bossing, Platybasia ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia OMIM:614830
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Neural tube defect, Clinodactyly OMIM:119580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Microphthalmia, Dandy-Walker malformation, Cerebellar dysplasia, Hypoplasia of t... OMIM:613153
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Camptodactyly, C... OMIM:617822
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia, Agenesis of cerebellar vermis OMIM:615665
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Patent ductus arteriosus, Chiari malformation, Apl... ORPHA:3378
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:609054
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia, Growth delay OMIM:614082
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Monosomy 18P
Brachycephaly, Microphthalmia, Hypertension, Lymphedema, Microcephaly, Short stature ORPHA:1598
Nanophthalmos 4
Microphthalmia OMIM:615972
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hammertoe, Hydrocephalus, Colpocephaly, Hip dysplasia, Acetabular dysplasia, Ventriculomegaly, In... OMIM:619833
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Martsolf Syndrome 2
Camptodactyly of finger, Overlapping toe, Camptodactyly, Lateral ventricle dilatation OMIM:619420
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia, Neonatal death OMIM:613730
Congenital Rubella Syndrome
Microphthalmia, Microcephaly, Short stature, Patent ductus arteriosus, Intrauterine growth retard... ORPHA:290
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Finger syndactyly, Congenital hip dislocation, Aplasia/... ORPHA:1647
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Hypoplasia of the pons, Cerebellar hypoplasia, Plagiocephaly OMIM:607313
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Microphthalmia, Tricuspid regurgitation, Abnormal cerebellum morphology, ... OMIM:618652
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... OMIM:252100
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly, Polyhydramnios, Increased nuchal translucency, Microcephaly, Short ... OMIM:618862
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Microphthalmia, Microcephaly, Short stature, Umbilical hernia, Edema ORPHA:2505
Intellectual Developmental Disorder, Autosomal Dominant 74
Intrauterine growth retardation, Brachycephaly, Microcephaly OMIM:620688
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Intellectual Developmental Disorder, X-Linked 103
Short palm, Lateral ventricle dilatation OMIM:300982
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Turricephaly, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Short stature,... OMIM:601853
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Chiari type I malformation OMIM:618859
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Frontal bossing, Intrauterine growth retardation, Cere... ORPHA:163966
Kleefstra Syndrome 2
Microcephaly, Plagiocephaly, Growth delay OMIM:617768
Baraitser-Winter Syndrome 2
Secondary microcephaly, Trigonocephaly, Microphthalmia, Short stature OMIM:614583
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Spina bifida, Toe syndactyly, Intrauterine growth retardat... OMIM:616038
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Intrauterine growth retardation, Postnatal growth retardation, Microcephaly, Brachycephaly OMIM:615419
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Frontal bossing, Plagiocephaly, Patent ductus arteriosus OMIM:618330
Microphthalmia, Syndromic 12
Microphthalmia, Neonatal death, Anophthalmia OMIM:615524
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic cardiomyo... OMIM:616897
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Patent ductus arteriosus, Cerebellar dysplasia, Microcephaly, Umbilical hernia, Ce... ORPHA:500159
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Microcephaly, Brachycephaly, Short stature OMIM:615031
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Microphthalmia, Pulmonary arterial hypertension, Short stature OMIM:300887
Ochoa Syndrome
Polydipsia ORPHA:2704
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Umbilical hernia, Intraut... OMIM:618651
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Microcephaly, Brachycephaly, Short stature OMIM:309541
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Microcephaly, Cerebellar hypoplasia, Brachycephaly ORPHA:352530
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Cerebellar vermis hypoplasia, Plagiocephaly, Microcephaly OMIM:614563
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Syndactyly, Intrauterine growth retardation OMIM:220210
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Developmental And Epileptic Encephalopathy 65
Microcephaly, Plagiocephaly, Cerebellar atrophy OMIM:618008
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Cerebellar vermis atrophy, Bilateral microphthalmos, Abnormal pons morphology ORPHA:77299
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Frontal bossing, Intrauterine growth retardation OMIM:300863
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Polyhydramnios, Rhizomelic arm shortening, Abnormally large globe ORPHA:96190
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Prune1-Related Neurological Syndrome
Microcephaly, Plagiocephaly, Cerebellar atrophy, Hypertrophic cardiomyopathy ORPHA:544469
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Intrauterine ... OMIM:603194
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios, Prominent occiput, Cerebellar vermis hypoplasia, Dandy-Walker mal... OMIM:616920
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Microcephaly, Frontal bossing, Intrauterine growth retardation OMIM:616801
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Polyhydramnios ORPHA:521390
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Flared humeral meta... OMIM:277590
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cerebellar atrophy, Dehydration, Microcephaly, Cerebellar hypoplasia OMIM:214150
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Microphthalmia, Aortic valve stenosis, Trigonocephaly, Microcephaly... OMIM:243310
Recombinant Chromosome 8 Syndrome
Brachycephaly, Postnatal growth retardation, Secondary microcephaly, Pulmonic stenosis, Growth de... OMIM:179613
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Frontal bossing, Microphthalmia ORPHA:1438
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Pulmonic stenosis, Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry ORPHA:137634
X-Linked Intellectual Disability, Sutherland-Haan Type
Microcephaly, Brachycephaly, Short stature ORPHA:93950
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis hypoplasia, Dandy-Walker malformati... OMIM:614424
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Microcephaly, Plagiocephaly, Increased nuchal translucency ORPHA:77300
Craniodigital-Intellectual Disability Syndrome
Short stature, Brachycephaly, Spina bifida occulta ORPHA:1514
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Spina bifida, Microcephaly, Short stature, Intrauterine growth retardation ORPHA:1327
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Single transverse palmar crease, Limb undergrowth, Agenesis of corpus callosum, ... ORPHA:79243
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Short stature, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops... OMIM:618265
Mosaic Trisomy 1
Rocker bottom foot, Deviation of the 5th toe, Cerebellar vermis hypoplasia, Broad 2nd toe, Single... ORPHA:1692
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Turricephaly, Frontal bossing, Chiari malformation, Aplasia/Hypoplasia of the cere... ORPHA:93262
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Cerebellar atrophy, Microcephaly, Short stature, Mild sho... OMIM:614833
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Bilateral microphthalmos, Short stature, Umbilical hernia ORPHA:369891
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, L... OMIM:614701
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Crouzon Syndrome
Brachycephaly, Turricephaly, Multiple suture craniosynostosis, Frontal bossing, Chiari malformati... ORPHA:207
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha... ORPHA:93260
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Temtamy Syndrome
Microphthalmia, Dolichocephaly ORPHA:1777
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Trigonocephaly, Microphthalmia, Primary microcephaly OMIM:618804
Galloway-Mowat Syndrome 3
Microphthalmia, Hypertension, Cerebellar atrophy, Microcephaly, Short stature, Frontal bossing, I... OMIM:617729
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Brachyturricephaly, Fr... OMIM:607597
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly OMIM:618774
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Syndactyly, Intrauterine growth retardation, Ventriculomegaly, Clinodactyly ORPHA:2169
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Microcephaly, Short stature, Intrauterine growth retardat... OMIM:617914
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Microcephaly, Growth delay OMIM:610756
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Microcephaly, Plagiocephaly, Cerebellar atrophy OMIM:617481
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Brachycephaly, Microcephaly, Patent ductus arteriosus OMIM:618142
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar atrophy, Lateral ventricle dilata... ORPHA:300573
Warburg Micro Syndrome 4
Secondary microcephaly, Brachycephaly, Microphthalmia, Severe postnatal growth retardation, Cereb... OMIM:615663
Curry-Jones Syndrome
Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, Agenesis of corpu... ORPHA:1553
Apert Syndrome
Limited elbow movement, Chiari type I malformation, Delayed epiphyseal ossification, Hydrocephalu... OMIM:101200
Lessel-Kreienkamp Syndrome
Plagiocephaly, Pulmonic stenosis, Frontal bossing, Patent ductus arteriosus, Scaphocephaly OMIM:619149
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular edema, Lymphedema, Microcephaly, Vitreous hemorrh... ORPHA:891
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Oligohydramnios, Scaphocephaly ORPHA:1143
Nephronophthisis 4
Polydipsia OMIM:606966
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Inferior cerebellar vermis hypoplasia, Clinodactyly of the 5th fing... ORPHA:96148
Clark-Baraitser Syndrome
Microcephaly, Dolichocephaly, Brachycephaly OMIM:617752
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Hydrops fetalis, Cerebellar atrophy, Ascites, Microcephaly, Frontal bossing, Peric... OMIM:608776
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Biparietal narrowing, Microcephaly, Short stature, Frontal bossing, Umbilical hern... ORPHA:1292
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microcephaly, Flat occiput, Microphthalmia, Lymphedema OMIM:152950
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Triphalangeal thumb, Dandy-Walker malformation, Calcaneovalgus deformity, Con... ORPHA:3078
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Cerebellar hypoplasia, Plagiocephaly OMIM:618731
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Cerebellar vermis hypoplasia, Frontal bossing, Intr... ORPHA:494344
Menkes Disease
Brachycephaly, Microcephaly, Short stature, Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Mosaic Trisomy 9
Microphthalmia, Hydrops fetalis, Polyhydramnios, Prominent occiput, Dandy-Walker malformation, Bi... ORPHA:99776
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th... OMIM:618914
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Chromosome 6Q24-Q25 Deletion Syndrome
Sandal gap, Hydrocephalus, Prominent fingertip pads, Agenesis of corpus callosum, Lateral ventric... OMIM:612863
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Frontal bossing, Microphthalmia, Short stature OMIM:619185
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Osteoporosis-Pseudoglioma Syndrome
Short stature, Frontal bossing, Microphthalmia ORPHA:2788
German Syndrome
Short stature, Dolichocephaly, Brachycephaly, Lymphedema ORPHA:2077
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Single transverse palmar crease, Clubbin... OMIM:618606
Fetal Alcohol Syndrome
Microphthalmia, Biparietal narrowing, Microcephaly, Short stature, Intrauterine growth retardation ORPHA:1915
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... OMIM:157900
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Microcephaly, Short stature, Umbilical hernia, Cerebellar hypoplasia ORPHA:261652
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Brachycephaly, Encephalocele ORPHA:1791
Muenke Syndrome
Brachycephaly, Plagiocephaly, Cloverleaf skull, Short stature, Coronal craniosynostosis OMIM:602849
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Lateral ventricle dilatation, Bila... ORPHA:284417
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Plagiocephaly, Brachycephaly OMIM:618603
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput OMIM:618672
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Houge-Janssens Syndrome 3
Microcephaly, Frontal bossing, Plagiocephaly, Umbilical hernia OMIM:618354
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Hemiatrophy ORPHA:306669
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Microcephaly, Flat occiput, Severe short stature, Brachycephaly ORPHA:2511
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Lateral ventricle dilatation OMIM:619972
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Microphthalmia OMIM:619694
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Fetal Trimethadione Syndrome
Intrauterine growth retardation, Brachycephaly, Microcephaly ORPHA:1913
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Microphthalmia, Brachycephaly OMIM:612379
Periventricular Nodular Heterotopia 1
Cerebellar hypoplasia, Clinodactyly, Syndactyly, Short finger OMIM:300049
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Microcephaly, Frontal bossing, Craniosynostosis ORPHA:1520
Hypomelanosis Of Ito
Hand polydactyly, Clinodactyly, Radial deviation of finger, Syndactyly OMIM:300337
Cornelia De Lange Syndrome 5
Microcephaly, Postnatal growth retardation, Short stature, Brachycephaly OMIM:300882
Slc35A2-Cdg
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Dan... ORPHA:356961
19P13.12 Microdeletion Syndrome
Brachycephaly, Aortic regurgitation, Microcephaly, Arrhythmia, Intrauterine growth retardation, C... ORPHA:254346
Chromosome 13Q33-Q34 Deletion Syndrome
Brachycephaly, Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Pulmonic st... OMIM:619148
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Microcephaly, Frontal bossing, Short stature, Dolichocephaly OMIM:619721
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Microphthalmia, Prominent occiput, Dandy-Walker malformation, Biparietal narrowing... ORPHA:2612
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growth retardation OMIM:219150
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Dolichocephaly OMIM:615433
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter... OMIM:146510
Cooper-Jabs Syndrome
Short stature, Frontal bossing, Brachycephaly, Umbilical hernia ORPHA:1488
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Short stature, Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:314575
6Q25 Microdeletion Syndrome
Microcephaly, Plagiocephaly, Short stature ORPHA:251056
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Unilambdoid synostosis OMIM:618577
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Microcephaly, Trigonocephaly, Short stature, Frontal bossing, Dolichocephaly, Cer... OMIM:612530
Cataract-Intellectual Disability-Hypogonadism Syndrome
Microcephaly, Brachycephaly, Short stature ORPHA:1387
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Microcephaly-Micromelia Syndrome