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
preweaning lethality, complete penetrance Anapc15tm1.1(KOMP)Vlcg HOM   Early adult 0.00
edema Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
microphthalmia Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal hindbrain morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
embryonic growth retardation Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal midbrain morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
embryonic growth retardation Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal forebrain morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
increased circulating HDL cholesterol level Anapc15tm1.1(KOMP)Vlcg HET Early adult 8.73×10-06
abnormal embryo size Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal placenta size Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
pallor Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal head shape Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal placenta morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal neural tube closure Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal craniofacial morphology Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal craniofacial morphology Anapc15tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal skin coloration Anapc15tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Lateral Orientation

12 Images

Sleep Wake

Wake state (bmp file)

8 Images

Adult LacZ

LacZ Images Section

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Gross Morphology Embryo E12.5

Images

8 Images

X-ray

XRay Images Forepaw

12 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 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
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cerebellar hypoplasia, Edema, Intrauterine growth retardation OMIM:616570
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydroc... ORPHA:1532
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, C... ORPHA:1528
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation OMIM:164180
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Cerebellar hypoplasia, Microphth... OMIM:218670
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Microphthalmia,... OMIM:616171
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Short stature, Pallor, Albinism ORPHA:2786
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Joubert Syndrome 22
Molar tooth sign on MRI, Microphthalmia, Agenesis of cerebellar vermis, Intrauterine growth retar... OMIM:615665
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Joubert Syndrome 10
Growth delay, Frontal bossing, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature, Brachycephaly ORPHA:2528
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Frontal bossing, Short stature ORPHA:166024
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology ORPHA:2432
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Chiari malformation, Microphthalmi... ORPHA:3378
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Lissencephaly 8
Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainstem, Cerebellar hypoplasia... OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cereb... OMIM:615181
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Oligohydramnios, Mi... ORPHA:228390
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Anophthalmia ORPHA:411986
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Cerebellar malformation, Hydrocephalus ORPHA:324416
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia OMIM:615771
Hydrolethalus
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia ORPHA:2189
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... OMIM:613155
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Microphthalmia, Intrauterine growth ret... ORPHA:2117
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Multiple cafe-au-lait spots, Intrauterine growth re... OMIM:609054
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Trisomy 1Q
Frontal bossing, Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Hydr... ORPHA:261344
Meckel Syndrome, Type 10
Dilated fourth ventricle, Frontal bossing, Occipital encephalocele, Anencephaly, Cerebellar hypop... OMIM:614175
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... ORPHA:60041
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia OMIM:614830
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cofs Syndrome
Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem... OMIM:613153
Peripheral Cone Dystrophy
Pallor OMIM:609021
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro... OMIM:614815
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... ORPHA:370959
Joubert Syndrome 2
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus... OMIM:608091
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... ORPHA:3412
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Microphthalmia, Short stature, Cerebellar hypoplasia OMIM:251270
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Hypoplasia of the pons, Brachyce... OMIM:618736
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Joubert Syndrome 37
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Microphtha... OMIM:619185
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Chiari malformation, Pallor, Microphthalmia, Cafe-au-lait ... OMIM:609053
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasi... OMIM:605627
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Nanophthalmos
Microphthalmia ORPHA:35612
X-Linked Sideroblastic Anemia
Pallor, Hyperpigmentation of the skin ORPHA:75563
Slc35A2-Cdg
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Craniosynostosis, Atrophy/Degene... ORPHA:356961
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Brachycephaly, Cutis laxa, Abnormality of skin pigmentation, Microp... OMIM:612379
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrocephalus, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Pierpont Syndrome
Microphthalmia, Chiari malformation, Brachycephaly, Excessive wrinkling of palmar skin ORPHA:487825
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation ORPHA:858
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Short stature, Delayed puberty ORPHA:141333
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Pierpont Syndrome
Short stature, Brachycephaly, Chiari malformation, Microphthalmia, Midface retrusion OMIM:602342
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly ORPHA:66625
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia ORPHA:77298
Joubert Syndrome 32
Molar tooth sign on MRI, Frontal bossing, Abnormal cerebellum morphology OMIM:617757
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Joubert Syndrome 7
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia, Hypermelanotic macule ORPHA:90322
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation, Intrauterine ... OMIM:603194
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly OMIM:147250
Nanophthalmos 4
Microphthalmia OMIM:615972
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia,... ORPHA:163966
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Postnatal growth retardation, Growth delay, Microphthalmia OMIM:206920
Walker-Warburg Syndrome
Anophthalmia, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Abnormal cerebellar vermis mo... ORPHA:899
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Seckel Syndrome 2
Few cafe-au-lait spots, Short stature, Growth delay, Cerebellar hypoplasia, Microphthalmia OMIM:606744
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Optic nerve hypoplasia, Bilateral microphthalmos, Hyperpigmented nevi, Brachytur... OMIM:607597
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor OMIM:613561
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Craniosynostosis 6
Cerebellar atrophy, Turricephaly, Dandy-Walker malformation, Craniosynostosis, Parietal foramina,... OMIM:616602
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati... ORPHA:77299
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth re... OMIM:300863
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Anophthalmia ORPHA:139471
Frontonasal Dysplasia 2
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Par... OMIM:613451
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Linear Nevus Sebaceus Syndrome
Frontal bossing, Melanocytic nevus, Prominent occiput, Plagiocephaly, Growth delay, Biparietal na... ORPHA:2612
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Bresek Syndrome
Optic nerve hypoplasia, Hydrocephalus, Plagiocephaly, Growth delay, Microphthalmia, Intrauterine ... ORPHA:85284
Duplication Of The Pituitary Gland
Encephalocele, Short stature, Abnormal midbrain morphology, Polyhydramnios, Brachyturricephaly, M... ORPHA:314621
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Rhizomelia, Platybasia, Microphthalmia ORPHA:93267
Warburg Micro Syndrome 1
Microphthalmia, Cerebellar vermis hypoplasia, Short stature, Cerebellar hypoplasia OMIM:600118
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Breath-Holding Spells
Pallor OMIM:607578
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Frontal bossing, Lymphedema OMIM:607131
Hemoglobin D Disease
Pallor ORPHA:90039
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ... OMIM:619306
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Plagiocephaly, Dolichocephaly, Aniridia, Umbilical hernia ORPHA:1101
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Mmep Syndrome
Microphthalmia ORPHA:3434
Crouzon Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Hypopigmented skin patches, Multiple... ORPHA:207
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus, Brachycephaly, Melanocytic nevus, Midface retrusion OMIM:612247
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... OMIM:213300
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Elongated supe... OMIM:615636
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia, Growth delay OMIM:308350
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Joubert Syndrome 27
Molar tooth sign on MRI, Frontal bossing OMIM:617120
Holoprosencephaly
Encephalocele, Frontal bossing, Anophthalmia, Flat occiput, Hydrocephalus, Spinal dysraphism, Bra... ORPHA:2162
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... ORPHA:2318
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Frontal bossing, Occipital encephalocele, Redundant neck skin, Short stature, Cerebellar vermis h... ORPHA:397715
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Frontal bossing, Polyhydramnios ORPHA:2547
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... ORPHA:220497
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Monosomy 18P
Short stature, Lymphedema, Brachycephaly, Holoprosencephaly, Microphthalmia ORPHA:1598
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Mic... ORPHA:2526
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Adams-Oliver Syndrome 2
Hydrocephalus, Retrocerebellar cyst, Cerebellar hypoplasia, Microphthalmia, Oligohydramnios OMIM:614219
Frontofacionasal Dysplasia
Encephalocele, Short stature, Brachycephaly, Microphthalmia, Midface retrusion ORPHA:1791
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Edema, Umbilical hernia, Microphthalmia, Irregular hyperpigmentation ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Buphthalmos, Hypoplasia of th... OMIM:613150
Meckel Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... ORPHA:564
Ring Chromosome 10 Syndrome
Microphthalmia, Frontal bossing, Intrauterine growth retardation ORPHA:1438
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis ORPHA:93323
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... ORPHA:220493
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microp... OMIM:615249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Cerebellar hypoplasia, Molar tooth sign on MRI, Microphthalmia, Dandy-... OMIM:616300
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Midface retrusion ORPHA:1135
Baraitser-Winter Syndrome 2
Trigonocephaly, Microphthalmia, Short stature OMIM:614583
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... OMIM:616546
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abno... ORPHA:163961
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Pontocerebellar Hypoplasia Type 10
Growth delay, Abnormal brainstem morphology ORPHA:411493
Temtamy Syndrome
Microphthalmia, Dolichocephaly ORPHA:1777
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Cafe-au-lait spot, Pallor OMIM:615234
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 8
Microphthalmia, Premature skin wrinkling OMIM:601349
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Chiari type I malformation, Abnorma... OMIM:218350
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor OMIM:266200
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... ORPHA:444072
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Flat occiput, Short stature, Oligohydramnios, Hypoplasia of the iris, Hypopla... OMIM:251300
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Microphthalmia, Syndromic 9
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... OMIM:601186
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:290
Alg3-Cdg
Hypoplasia of the pons, Neural tube defect, Hypopigmentation of the skin, Dandy-Walker malformation ORPHA:79321
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Cerebellar hypoplasia, Pallor OMIM:613839
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Anophthalmia, Hydrocephalus, Erythema, Hypopigmented skin patches, Growth d... ORPHA:2556
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Polyhydramnios, Prominent occiput, Growth delay, Microphthalmia, Da... OMIM:616920
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Hypoplasia of the brainstem, Pallor, Cerebe... OMIM:253280
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Redundant neck skin, Abnormal cerebellum morphology OMIM:618652
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postna... OMIM:206900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the brainste... OMIM:614643
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Postnatal growth retardation, Microphthalmia, Intr... ORPHA:494344
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Microphthalmia, Cerebellar hypoplasia, Dehydration OMIM:214150
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia, Hypermelanotic macule ORPHA:90321
Retinitis Pigmentosa 51
Pallor OMIM:613464
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Frontal bossing, Short stature ORPHA:2788
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Marden-Walker Syndrome
Postnatal growth retardation, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia,... OMIM:248700
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Achondrogenesis, Type Ii
Frontal bossing, Edema, Abnormally large globe, Polyhydramnios, Disproportionate short-trunk shor... OMIM:200610
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Microcephaly-Micromelia Syndrome
Craniosynostosis, Aqueductal stenosis, Microphthalmia, Intrauterine growth retardation, Oligohydr... OMIM:251230
Frontonasal Dysplasia 3
Microphthalmia, Brachycephaly OMIM:613456
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cerebellar hypoplasia OMIM:613730
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... OMIM:610829
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Intrauterine growth... OMIM:617914
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Warburg Micro Syndrome 4
Cerebellar atrophy, Short stature, Brachycephaly, Severe postnatal growth retardation, Microphtha... OMIM:615663
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Short stature, Holoprosencephaly, Cerebellar hypoplasia, Dolichocephaly, Trigono... OMIM:612530
Sandestig-Stefanova Syndrome
Trigonocephaly, Microphthalmia, Intrauterine growth retardation OMIM:618804
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Frontal bossing, Short stature, Edema, Oligohydramnios, Microphthalmia, Midfa... OMIM:617729
Dravet Syndrome
Pallor ORPHA:33069
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Umbilical hernia, Midface ... ORPHA:369891
Charge Syndrome
Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Aqueductal stenosis, H... ORPHA:138
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Frontal bossing, Short stature, Generalized hypopigmentation OMIM:617306
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Stevenson-Carey Syndrome
Cerebellar hypoplasia, Microphthalmia, Brachycephaly OMIM:611961
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Flat occiput, Lymphedema OMIM:152950
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Anencephaly, Brachycephaly, Trigonocephaly, Microphthalmia, Cafe-au... OMIM:619148
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Oligohydramnios, Prominent occiput, Biparietal nar... ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... OMIM:236670
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cerebellar hypoplasia OMIM:618805
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anterior plagiocephaly, Frontal bossing, Microphthalmia, Brachycephaly ORPHA:163649
Mosaic Variegated Aneuploidy Syndrome
Frontal bossing, Short stature, Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Increased n... ORPHA:1052
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Trigonocephaly, Microphthalmia, Midface retrusion OMIM:243310
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Ol... OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Cerebellar hypoplas... OMIM:253800
Trisomy 18
Short stature, Spina bifida, Anencephaly, Oligohydramnios, Prominent occiput, Growth delay, Chiar... ORPHA:3380
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Holoprosencephaly 7
Frontal bossing, Flat occiput, Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bi... OMIM:610828
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Biparietal narrowing, Intrauterine growth retardation ORPHA:1915
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Hydrocephalus, Chiari type I malformation OMIM:617244
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Curry-Jones Syndrome
Occipital meningocele, Unicoronal synostosis, Lipomyelomeningocele, Chiari type I malformation, M... OMIM:601707
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Focal Dermal Hypoplasia
Linear hyperpigmentation, Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Reticular... OMIM:305600
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Anophthalmia, Plagiocephaly, Growth delay, Microphthalmia ORPHA:2538
Trichothiodystrophy 3, Photosensitive
Trigonocephaly, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Microphthalmia, Short stature, Skin ulcer ORPHA:1806
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema ORPHA:79279
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Short stature, Brachycephaly ORPHA:264200
Incontinentia Pigmenti
Hypoplasia of the fovea, Short stature, Erythema, Abnormality of skin pigmentation, Pallor, Micro... OMIM:308300
Fanconi Anemia, Complementation Group C
Short stature, Anemic pallor, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, I... OMIM:227645
Histiocytoid Cardiomyopathy
Hydrocephalus, Pallor, Cerebellar malformation, Microphthalmia, Congenital aphakia, Pulmonary edema ORPHA:137675
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Dominant Beta-Thalassemia
Frontal bossing, Skin ulcer, Growth delay, Pallor, Delayed puberty, Hyperpigmentation of the skin ORPHA:231226
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer... ORPHA:79139
Joubert Syndrome 38
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Inferior c... OMIM:619476
Hallermann-Streiff Syndrome
Frontal bossing, Spina bifida, Proportionate short stature, Scaphocephaly, Brachycephaly, Dry ski... OMIM:234100
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Cerebellar vermis hypoplasia, Oligohydramnios OMIM:618494
Fumarase Deficiency
Frontal bossing, Polyhydramnios, Hypoplasia of the brainstem, Pallor, Ascites OMIM:606812
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Buphthalmos, Abnormal pons morpholog... ORPHA:370997
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Gracile Bone Dysplasia
Short stature, Hydrocephalus, Aniridia, Microphthalmia, Ascites OMIM:602361
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:600901
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Microphthalmia, Ascites, Calvarial skull defect ORPHA:974
Curry-Jones Syndrome
Microphthalmia, Hypopigmented skin patches, Craniosynostosis ORPHA:1553
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot OMIM:227650
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Micro Syndrome
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Delayed puberty, Mic... ORPHA:2510
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Short stature, Dolichocephaly, Microphthalmia, Inferior cerebellar vermis hypopl... OMIM:618571
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Meckel Syndrome 14
Occipital encephalocele, Increased nuchal translucency, Decreased calvarial ossification, Holopro... OMIM:619879
Fraser Syndrome 1
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Calvarial... OMIM:219000
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Microphth... OMIM:613001
Bartsocas-Papas Syndrome 2
Prominent occiput, Microphthalmia OMIM:619339
Fanconi Anemia, Complementation Group F
Short stature, Polyhydramnios, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, ... OMIM:603467
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Dolichocephaly OMIM:167730
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Beta-Thalassemia Major
Frontal bossing, Skin ulcer, Growth delay, Pallor, Delayed puberty, Hyperpigmentation of the skin ORPHA:231214
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Hydrom... ORPHA:268810
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Rhizomelia, Edema, Polyhydramnios, Postnatal growth retardation, Microphthalmia,... OMIM:302960
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Microphthalmia, Cerebellar cyst OMIM:616538
Waldenström Macroglobulinemia
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Frontal bossing OMIM:614105
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Cafe-au-lait spot, Pallor ORPHA:300298
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Frontal bossing, Postnatal growth retardation, Severe intrauterine growth retarda... OMIM:241410
Orofaciodigital Syndrome Type 6
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Growth delay, Biparietal narrowing,... ORPHA:2754
Irida Syndrome
Pallor ORPHA:209981
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia ORPHA:137634
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia, Calvarial skull ... ORPHA:2052
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Laron Syndrome
Hypercholesterolemia ORPHA:633
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Short stature, Severe postnatal growth retardation, Scaling skin, Microphthalmia ORPHA:35173
Cerebrooculofacioskeletal Syndrome 4