Gene Summary

Name:
anaphase promoting complex C subunit 15
Synonyms:
6330414C15Rik,  3200002M19Rik

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
edema Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
preweaning lethality, complete penetrance Anapc15tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal placenta morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal craniofacial morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal midbrain morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal skin coloration Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal embryo size Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal hindbrain morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
microphthalmia Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal neural tube closure Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal head shape Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal forebrain morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
pallor Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
embryonic growth retardation Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal craniofacial morphology Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
embryonic growth retardation Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal placenta size Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
anophthalmia Anapc15tm1.1(KOMP)Vlcg HOM 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)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote Not available
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Section

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

12 Images

Gross Morphology Embryo E14.5-E15.5

Images

10 Images

Gross Morphology Embryo E12.5

Images

6 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Sleep Wake

Wake state (bmp file)

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Anapc15 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 Anapc15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microphth... OMIM:615771
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microcephaly, Edema, Microphthalmia OMIM:616570
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Gómez-López-Hernández Syndrome
Midface retrusion, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainst... ORPHA:1532
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Micr... OMIM:615665
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Microphthalmia, Short stature, Simplified gyral pattern, In... OMIM:616171
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing, Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-o... ORPHA:1528
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Micro... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Brachycephaly, Microphthalmia, Short stature, Microcephaly ORPHA:2528
Cofs Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Microphthalmia, Cerebral calcifi... ORPHA:1466
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Agenesis of corpus callosum, Lambdoidal craniosynosto... OMIM:618736
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormality of the fontanelles or cranial sutures, Abnormality of calvarial morphology, Microphth... ORPHA:2432
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Frontal bossing OMIM:300804
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h... OMIM:218670
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Pallor, Hypopigmentation of the skin, Short stature ORPHA:2786
Congenital Varicella Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Pachygyria, Cerebral atrophy, Cerebellar hypoplasia, Microphtha... OMIM:251270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Trisomy 13
Hydrops fetalis, Arnold-Chiari malformation, Calvarial skull defect, Aplasia/Hypoplasia of the ir... ORPHA:3378
Slc35A2-Cdg
Craniosynostosis, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the ... ORPHA:356961
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia ORPHA:411986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Meckel Syndrome, Type 8
Microcephaly, Microphthalmia, Anophthalmia OMIM:613885
Retinitis Pigmentosa 42
Pallor OMIM:612943
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Arnold-Chiari malformation, Absent septum pellucidum, Optic nerve hy... OMIM:609053
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Frontal bossing, Brainstem d... OMIM:608091
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hydrolethalus
Polyhydramnios, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Microphtha... ORPHA:2189
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Frontal bossing, Cerebellar hypopla... ORPHA:261344
Retinitis Pigmentosa 81
Pallor OMIM:617871
Walker-Warburg Syndrome
Pachygyria, Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Dandy-Walker malforma... ORPHA:899
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Cerebral atrophy, Microphthalmia, Microcephaly, Agenesis of corpus callosum OMIM:274270
Al-Gazali-Bakalinova Syndrome
Lymphedema, Molar tooth sign on MRI, Agenesis of corpus callosum, Frontal bossing OMIM:607131
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Hydroceph... ORPHA:370959
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Oligohydramnios, Calvarial skull defect, Brachycephaly, Microphthalmia, Coronal ... ORPHA:228390
Optic Atrophy 9
Pallor OMIM:616289
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Multiple cafe-au-lait spots, Microphthalmia, Postnatal growth re... OMIM:609054
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Abnormal corpus callosum morphology, Dandy-Walker malformation, ... OMIM:616602
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
20Q11.2 Microdeletion Syndrome
Midface retrusion, Intrauterine growth retardation, Frontal bossing, Brainstem dysplasia ORPHA:444051
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Microphthalmia, Anophthalmia,... ORPHA:3412
Hartsfield Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Lobar holoprosenceph... ORPHA:2117
Congenital Toxoplasmosis
Microphthalmia, Cerebral calcification, Ascites, Intrauterine growth retardation, Microcephaly, H... ORPHA:858
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microphthalmia, Short stature, Anophthalmia, Microcephaly, Anterior hypopituit... OMIM:147250
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Cerebellar malformation, Microphthalmia, Hydrocephalus ORPHA:324416
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Abnormal cerebellum morphology, Frontal bossing OMIM:617757
Fanconi Anemia, Complementation Group G
Microcephaly, Growth delay, Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Growth delay, Microphthalmia OMIM:278780
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the cerebellum, Porencephalic cyst, Biparietal narrowing, Aplasia/Hypoplasi... ORPHA:2612
Pierpont Syndrome
Primary microcephaly, Excessive wrinkling of palmar skin, Abnormal cortical gyration, Brachycepha... ORPHA:487825
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Warburg Micro Syndrome 1
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar vermis hypoplasia, Cerebellar hyp... OMIM:600118
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Bilateral microphthalmos, Cerebellar vermis atrophy, Diffuse cerebral at... ORPHA:77299
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Frontal bossing, Hypoplasia of the corpus callosum, Postnatal growth reta... OMIM:206900
Adams-Oliver Syndrome 2
Oligohydramnios, Cerebral atrophy, Cerebellar hypoplasia, Retrocerebellar cyst, Polymicrogyria, M... OMIM:614219
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor, Cafe-au-lait spot OMIM:615234
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Microphthalmia With Limb Anomalies
Frontal bossing, Growth delay, Postnatal growth retardation, Microphthalmia, Anophthalmia OMIM:206920
Pontocerebellar Hypoplasia, Type 3
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypo... OMIM:608027
Non-Distal Trisomy 10Q
Frontal bossing, Brachycephaly, Short stature, Microcephaly, Aplasia/Hypoplasia affecting the eye ORPHA:1695
Adenylosuccinate Lyase Deficiency
Hypointensity of cerebral white matter on MRI, Flat occiput, Brachycephaly, Microcephaly, Promine... ORPHA:46
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Large fontanelles, Platybasia, Rhizomelia, Cloverleaf skull, Microphthalmia, Age... ORPHA:93267
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Growth delay, Microphthalmia, Anophthalmia, Agenesis of corpus ... ORPHA:77298
Menkes Disease
Wormian bones, Cutis laxa, Brachycephaly, Short stature, Intrauterine growth retardation, Microce... OMIM:309400
Cockayne Syndrome Type 2
Subcortical white matter calcifications, Intrauterine growth retardation, Hypermelanotic macule, ... ORPHA:90322
Cerebrooculonasal Syndrome
Craniosynostosis, Frontal bossing, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasi... OMIM:605627
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microph... OMIM:615249
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Pierpont Syndrome
Arnold-Chiari malformation, Midface retrusion, Brachycephaly, Microphthalmia, Short stature, Micr... OMIM:602342
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Microphthalmia, Short stature, Simplified gyral pa... OMIM:617914
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Cerebral atrophy, Pallor, Cerebellar hypoplasia OMIM:613839
Optic Atrophy 1
Pallor OMIM:165500
Biemond Syndrome Type 2
Short stature, Delayed puberty, Microphthalmia, Hydrocephalus ORPHA:141333
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Pallor ORPHA:75563
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Microphthalmia With Brain And Digit Anomalies
Inferior vermis hypoplasia, Microphthalmia, Anophthalmia, Microcephaly, Agenesis of corpus callosum ORPHA:139471
Aplasia Cutis Congenita
Calvarial skull defect, Spinal dysraphism, Skin ulcer ORPHA:1114
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Mmep Syndrome
Microcephaly, Microphthalmia ORPHA:3434
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Optic disc hypoplasia, Hypoplasia of the cor... OMIM:619306
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Pallor, Hydrocephalus ORPHA:163596
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Optic nerve h... OMIM:614833
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Nanophthalmos
Microphthalmia ORPHA:35612
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:614815
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Holoprosencephaly, Microphthalmia, Short stature, Microcephaly OMIM:612530
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly OMIM:614120
Seckel Syndrome 2
Few cafe-au-lait spots, Growth delay, Cerebellar hypoplasia, Microphthalmia, Short stature, Micro... OMIM:606744
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Frontal bossing, Absent septum pellucidum, Cerebellar vermis hypoplasia, Cerebell... ORPHA:397715
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Cerebrooculonasal Syndrome
Brachycephaly, Anophthalmia ORPHA:66625
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Cerebellar hypoplasia, Microphthalmia, Short stature, Intrauterine g... ORPHA:163966
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Frontal bossing, Anencephaly OMIM:614175
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Heart And Brain Malformation Syndrome
Polyhydramnios, Wide anterior fontanel, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of ... OMIM:616920
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Plagiocephaly, Ag... OMIM:213300
Bresek Syndrome
Growth delay, Plagiocephaly, Optic nerve hypoplasia, Microphthalmia, Intrauterine growth retardat... ORPHA:85284
Pontocerebellar Hypoplasia Type 10
Growth delay, Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex m... ORPHA:411493
Cleidocranial Dysplasia, Recessive Form
Brachycephaly, Severe short stature OMIM:216330
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Baraitser-Winter Syndrome 2
Pachygyria, Trigonocephaly, Microphthalmia, Short stature, Secondary microcephaly, Agenesis of co... OMIM:614583
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Cystoid macular edema, Microphthalmia OMIM:611040
Meckel Syndrome, Type 2
Anencephaly, Meningocele, Microphthalmia, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Retinitis Pigmentosa 70
Pallor OMIM:615922
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... OMIM:614563
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Rhizomelia, Microphthalmia, Short stature, Intrauterine growth retardation, Hydr... OMIM:300863
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:195
Xk Aprosencephaly Syndrome
Polyhydramnios, Microcephaly, Microphthalmia ORPHA:3469
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Microphthalmia, Short stature ORPHA:48431
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Duplication Of The Pituitary Gland
Polyhydramnios, Abnormality of the pituitary gland, Abnormal midbrain morphology, Midface retrusi... ORPHA:314621
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Rhizomelia, Erythema, Microphthalmia, Short stature ORPHA:35173
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Frontal bossing, Hydrocephalus, Midface retrusion, Hypoplasia of t... OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Megalencephaly, Polymicrogyria, Microphthalmia, Hydrocephalus OMIM:602501
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of the fontanelles or cranial sutures, Microphthalmia... ORPHA:290
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Brachycephaly, Short sta... ORPHA:320385
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia, Short stature OMIM:300915
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Monosomy 18P
Lymphedema, Holoprosencephaly, Brachycephaly, Microphthalmia, Short stature, Microcephaly ORPHA:1598
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebel... ORPHA:163961
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature OMIM:277170
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Agenesis of corpus callosum, Microphthalmia, Cerebellar hypoplasia OMIM:214150
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Adult Krabbe Disease
Abnormal corpus callosum morphology, Abnormality of the medulla oblongata, Abnormal pons morpholo... ORPHA:206448
Crouzon Disease
Arnold-Chiari malformation, Frontal bossing, Midface retrusion, Melanocytic nevus, Cerebellar hyp... ORPHA:207
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, Frontal bossing, Cerebral atrophy, Poly... OMIM:606812
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callos... ORPHA:2162
Cyclic Vomiting Syndrome
Microcephaly, Growth delay, Pallor OMIM:500007
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brains... OMIM:611560
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Midface retrusion, Melanocytic nevus, Brachycephaly, Hydrocephalus OMIM:612247
Cerebrooculofacioskeletal Syndrome 4
Premature closure of fontanelles, Cerebellar hypoplasia, Bilateral microphthalmos, Polymicrogyria... OMIM:610758
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Optic nerve hypoplasia, Microphthalmia, Short stature, Anophthalmia OMIM:610125
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Craniosynostosis, Large fontanelles, Cerebral atrophy, Umbi... ORPHA:171839
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia o... OMIM:253280
Holoprosencephaly 9
Panhypopituitarism, Midface retrusion, Holoprosencephaly, Anterior pituitary agenesis, Decreased ... OMIM:610829
Galloway-Mowat Syndrome 3
Pachygyria, Oligohydramnios, Midface retrusion, Hypoplasia of the corpus callosum, Cerebral atrop... OMIM:617729
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Plagiocephaly, Brachycephaly, Microcephaly, Diffuse cerebral atrophy ORPHA:2898
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Umbilical hernia, Edema, Microphthalmia, Short stature, Microcephaly ORPHA:2505
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Plagiocephaly, Anophthalmia, Dolichocephaly ORPHA:1101
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Breath-Holding Spells
Pallor OMIM:607578
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Temtamy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Dolichocephaly, Microphthalmia ORPHA:1777
Hemimegalencephaly
Pachygyria, Polymicrogyria, Hyperintensity of cerebral white matter on MRI, Focal cortical dyspla... ORPHA:99802
Retinitis Pigmentosa 73
Pallor OMIM:616544
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Umbilical hernia, Plagiocephaly, ... OMIM:618354
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal hypothalamus morp... ORPHA:68
Galloway-Mowat Syndrome 1
Hypoplasia of the brainstem, Pachygyria, Oligohydramnios, Midface retrusion, Hypoplasia of the co... OMIM:251300
Microphthalmia, Syndromic 8
Microcephaly, Microphthalmia, Premature skin wrinkling OMIM:601349
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Microphthalmia, Frontal bossing ORPHA:2547
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Midface retrusion, Hypoplasia of the c... ORPHA:444072
Marden-Walker Syndrome
Hypoplasia of the brainstem, Wide anterior fontanel, Cerebellar hypoplasia, Postnatal growth reta... OMIM:248700
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Rhombencephalosynapsis, Midface retrusio... OMIM:601853
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Megalencephaly, Umbilical hernia, Brachycephaly, Short stature, Intrauterine gro... OMIM:600325
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Cerebellar atrophy, Brachycephaly, ... OMIM:615663
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Plagiocephaly, Brachycephaly, I... ORPHA:272
Joubert Syndrome 21
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Elongated superior cerebellar ped... OMIM:615636
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Frontal bossing, Hypoplasia of th... OMIM:614643
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Microphthalmia, Anophthalmia OMIM:615877
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Pleural effusion, Scaling skin, Severe short stature, Chylothorax, Edema, Microphthal... ORPHA:2526
Curry-Jones Syndrome
Craniosynostosis, Megalencephaly, Arnold-Chiari type I malformation, Polymicrogyria, Microphthalm... OMIM:601707
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Primary microcephaly, Trigonocephaly, Microphthalmia, Intraute... OMIM:618804
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Type II lissencephaly, Postna... ORPHA:300570
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Hypo... OMIM:613001
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Po... ORPHA:370997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Po... OMIM:616538
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia, Frontal bossing ORPHA:1438
Microcephaly-Micromelia Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Microphthalmia, Sim... OMIM:251230
Sporadic Fetal Brain Disruption Sequence
Cerebral cortical atrophy, Microcephaly, Prominent occiput, Plagiocephaly ORPHA:1665
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Polyhydramnios, Temporal cortical atrophy, Hypoplasia of the corpus callosum, Plagiocephaly, Incr... OMIM:618862
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Hydrocephalus, Absent septum pellucidum, Midface retrusion, Gro... ORPHA:2556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Fibular Hemimelia
Spina bifida, Craniosynostosis, Anophthalmia ORPHA:93323
Joubert Syndrome With Renal Defect
Biparietal narrowing, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Molar tooth si... ORPHA:220497
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Short stature ORPHA:49827
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Arnold-Chiari type I malformation, Agenesis of corpus callosum, Plagiocephaly ORPHA:459074
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing,... ORPHA:1926
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Baraitser-Winter Syndrome 1
Pachygyria, Midface retrusion, Postnatal growth retardation, Trigonocephaly, Microphthalmia, Shor... OMIM:243310
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Mo... ORPHA:2318
Hemifacial Microsomia
Agenesis of corpus callosum, Arnold-Chiari malformation, Branchial anomaly, Microphthalmia, Anoph... OMIM:164210
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Bilateral microphthalmos, Postnatal growth retardation, Growth delay OMIM:600122
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Delayed puberty, Pallor OMIM:600462
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Frontal bossing OMIM:614105
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema, Flat occiput, Microphthalmia, Simplified gyral pattern, Microcephaly OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Cereb... OMIM:613150
Hallermann-Streiff Syndrome
Wormian bones, Spina bifida, Frontal bossing, Thin calvarium, Platybasia, Proportionate short sta... OMIM:234100
17Q12 Microduplication Syndrome
Polyhydramnios, Cortical dysplasia, Microphthalmia ORPHA:261272
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Midface retrusion, Melanocytic nevus, Brachycephaly, Short stature, Intrauterine gr... ORPHA:1327
9P13 Microdeletion Syndrome
Umbilical hernia, Brachycephaly, Short stature, Cafe-au-lait spot, Metopic synostosis, Dry skin ORPHA:324313
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Absent septum pellucidum, Arrhinencephaly, Growth delay, Plagiocephaly, Abnormal... ORPHA:2538
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Midface retrusion, Microphthalmia ORPHA:1135
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microcephaly, Growth delay, Microphthalmia OMIM:610756
Micro Syndrome
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral cor... ORPHA:2510
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Osteoporosis-Pseudoglioma Syndrome
Short stature, Wormian bones, Microphthalmia, Frontal bossing ORPHA:2788
Myoclonus, Intractable, Neonatal
Microcephaly, Progressive leukoencephalopathy, Pallor OMIM:617235
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Brachycephaly, Microphthalmia, Cerebellar hypoplasia OMIM:611961
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Hydrops fetalis, Biparietal narrowing, Large fontanelles, Oligohydr... ORPHA:99776
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cutis laxa, Cerebellar vermis hypoplasia, Polymicrogyria, Brach... OMIM:612379
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Abnormality of skin pigmentation, Aplasia/Hypoplasia of the cerebellum, Aplasia/H... ORPHA:1052
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Oligohydramnios, Brachycephaly, Short stature, Intrauterine growth retardation,... ORPHA:2145
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Midface retrusion, Rhizomelia, Cerebellar hypoplasia, Microphthalmia, Mola... OMIM:616300
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Postnatal growt... ORPHA:494344
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Trisomy 18
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Holoprosencephaly, Grow... ORPHA:3380
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Aplasia/Hypoplasia of the iris, Anenc... ORPHA:564
Cockayne Syndrome Type 1
Basal ganglia calcification, Hypermelanotic macule, Postnatal growth retardation, Anophthalmia ORPHA:90321
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Secondary microcephaly, Postnatal growth retardation, Cerebral... OMIM:614222
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Molar tooth si... ORPHA:220493
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Redundant neck skin, Abnormal cerebellum morphology, Microphthalmia OMIM:618652
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymicrogyria, Anopht... OMIM:156810
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Hypoplasia of the ... ORPHA:500159
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria, Molar... OMIM:616546
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Bilateral microphthalmos, Optic nerve hypoplasia, Hyperpigmented nevi, Brachytur... OMIM:607597
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Midface retrusion, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Plag... OMIM:618577
Spondyloepiphyseal Dysplasia, Nishimura Type
Wide anterior fontanel, Frontal bossing, Anterior plagiocephaly, Abnormality of cranial sutures, ... ORPHA:163649
Frontofacionasal Dysplasia
Midface retrusion, Hypoplasia of the corpus callosum, Brachycephaly, Microphthalmia, Short stature ORPHA:1791
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Charge Syndrome
Polyhydramnios, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Aqueductal stenosis, Pos... ORPHA:138
Frontonasal Dysplasia 3
Brachycephaly, Microphthalmia OMIM:613456
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Bilateral microphthalmos, Short stature, Anophthalmia OMIM:601186
Fetal Alcohol Syndrome
Biparietal narrowing, Microphthalmia, Short stature, Intrauterine growth retardation, Microcephaly ORPHA:1915
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Brachycephaly, Short stature, Anophthalmia, Optic nerve aplasia, A... ORPHA:264200
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Frontal bossing, Optic disc hypoplasia, Hypoplasia of the corpus cal... ORPHA:420179
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia, Microcephaly, Dolichocephaly, Severe postnatal growth r... ORPHA:2399
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Abnormal periventricular white matter morphology, Cortical dysplasia, Cerebral ... ORPHA:468631
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Pericardial effusion, Cerebellar atrophy, Edema, Ascites, Brachycephaly, Microce... OMIM:608776
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
American Trypanosomiasis
Periorbital edema, Edema, Pallor ORPHA:3386
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:1908
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/Hypoplasia of the iris, O... ORPHA:137902
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Microcephaly, Brachycephaly, Short stature, Thin calvarium OMIM:122900
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Pericardial effusion, Cer... OMIM:617822
Warburg Micro Syndrome 2
Hypoplasia of the corpus callosum, Secondary microcephaly, Postnatal growth retardation, Polymicr... OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Hypoplasia of the brainstem, Cerebellar malformation, Pachygyria, Type II lissenceph... OMIM:236670
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor ORPHA:3226
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Occipital meningocele, Agenesis of cerebellar v... OMIM:243910
Incontinentia Pigmenti
Abnormality of skin pigmentation, Erythema, Microphthalmia, Short stature, Microcephaly, Hypoplas... OMIM:308300
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Brachycephaly, Arnold-Chiari malformation,... ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, H... OMIM:253800
Chromosome 13Q33-Q34 Deletion Syndrome
Agenesis of corpus callosum, Anencephaly, Trigonocephaly, Brachycephaly, Microphthalmia, Short st... OMIM:619148
Craniosynostosis And Dental Anomalies
Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis, Trigonocephaly, Brachyc... OMIM:614188
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Craniodigital-Intellectual Disability Syndrome
Short stature, Brachycephaly, Spina bifida occulta ORPHA:1514
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Brachytu... OMIM:604757
Dravet Syndrome
Pallor, Dysgenesis of the hippocampus ORPHA:33069
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Focal Dermal Hypoplasia
Aniridia, Arnold-Chiari malformation, Reticular hyperpigmentation, Hydrocephalus, Umbilical herni... OMIM:305600
Xeroderma Pigmentosum, Complementation Group B
Freckling, Basal ganglia calcification, Cerebellar atrophy, Microphthalmia, Short stature, Microc... OMIM:610651
Fanconi Anemia, Complementation Group C
Anemic pallor, Hyperpigmentation of the skin, Microphthalmia, Short stature, Cafe-au-lait spot, I... OMIM:227645
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Umbilical hernia, Lens coloboma, Microphthalmia, Dilation of l... OMIM:618914
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Cafe-au-lait spot, Microphthalmia, Hydrocephalus OMIM:614083
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Polyhydramnios, Hypoplasia of the corpus callosum, Plagiocephaly ORPHA:521390
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Pallor OMIM:246450
Joubert Syndrome 14
Dandy-Walker malformation, Growth delay, Microphthalmia, Hydrocephalus OMIM:614424
Dominant Beta-Thalassemia
Frontal bossing, Growth delay, Hypopituitarism, Delayed puberty, Hyperpigmentation of the skin, P... ORPHA:231226
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphol... ORPHA:2720
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Fanconi Anemia, Complementation Group F
Polyhydramnios, Hyperpigmentation of the skin, Microphthalmia, Short stature, Cafe-au-lait spot, ... OMIM:603467
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormality of skin pigmentation, Microphthalmia, Short stature, Cafe-au-lait spot... OMIM:600901
Panhypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Frontonasal Dysplasia 1
Lipoma of corpus callosum, Microphthalmia, Agenesis of corpus callosum OMIM:136760
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Cutis Laxa, Autosomal Recessive, Type Iiia
Wormian bones, Large fontanelles, Frontal bossing, Cutis laxa, Umbilical hernia, Severe short sta... OMIM:219150
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Microphthalmia OMIM:618805
Bartsocas-Papas Syndrome 2
Prominent occiput, Microphthalmia, Wide anterior fontanel OMIM:619339
Histiocytoid Cardiomyopathy
Congenital aphakia, Cerebellar malformation, Agenesis of corpus callosum, Microphthalmia, Pulmona... ORPHA:137675
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesen... OMIM:601374
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormality of skin pigmentation, Microphthalmia, Short stature, Cafe-au-lait spot... OMIM:227650
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Cerebellar vermis atrophy, Brachycephaly, Microphthalmia, Micr... OMIM:156610
Mosaic Trisomy 1
Polyhydramnios, Frontal bossing, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Small anter... ORPHA:1692
Developmental And Epileptic Encephalopathy 65
Microcephaly, Cerebellar atrophy, Cerebral atrophy, Plagiocephaly OMIM:618008
Muenke Syndrome
Hydrocephalus, Plagiocephaly, Brachycephaly, Hypopigmented skin patches, Hypermelanotic macule, C... ORPHA:53271
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Hydrocephalus, Growth delay, ... OMIM:614886
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Abnormality of skin pigmentation, Microphthalmia, Skin ulcer ORPHA:1806
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:610688
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Pituitary... ORPHA:95613
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Polyhydramnios, Abnormally large globe, Rhizomelic arm shortening ORPHA:96190
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Spondylo-Ocular Syndrome
Short stature, Disproportionate short-trunk short stature, Microphthalmia, Aplasia/Hypoplasia of ... ORPHA:85194
Kleefstra Syndrome Due To A Point Mutation
Midface retrusion, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, ... ORPHA:261652
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Pleural effusion, Cerebellar hypoplasia, Brachyce... OMIM:616897
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Midface retrusion, Bilateral microphthalmos, Umbilical hernia, Plagiocephaly, Brachycephaly, Shor... ORPHA:369891
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Beta-Thalassemia Major
Frontal bossing, Growth delay, Hypopituitarism, Delayed puberty, Hyperpigmentation of the skin, P... ORPHA:231214
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Midface retrusion, Abnorm... OMIM:607932
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Rieger anomaly, Brachycephaly, Short stature, Agenesis of corpus callosum OMIM:109120
Adams-Oliver Syndrome
Porencephalic cyst, Calvarial skull defect, Periventricular leukomalacia, Microphthalmia, Ascites... ORPHA:974
Retinitis Pigmentosa 51
Pallor OMIM:613464
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Frontal ... ORPHA:2754
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Microphthalmia, Anophthalmia ORPHA:2250
Coach Syndrome 1
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the ce... OMIM:216360
Craniosynostosis 4
Posterior plagiocephaly, Pansynostosis, Lambdoidal craniosynostosis, Frontal bossing, Anterior pl... OMIM:600775
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Frontal bossing, Postnatal growth retardation, Edema, Microphthalmia, Dandy-Walke... OMIM:302960
Fraser Syndrome 1
Calvarial skull defect, Bilateral microphthalmos, Abnormal cortical gyration, Anophthalmia, Micro... OMIM:219000
Rheumatic Fever
Hemiballismus, Pallor, Erythema ORPHA:3099
Myoclonic-Astatic Epilepsy
Microcephaly, Microphthalmia, Premature skin wrinkling ORPHA:1942
Osteopathia Striata-Cranial Sclerosis Syndrome