Gene Summary

Name:
phenylalanine hydroxylase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cornea morphology Pahem1(IMPC)Tcp HOM Early adult 2.65×10-05
small adrenal glands Pahem1(IMPC)Tcp HOM Early adult 0.00
female infertility Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal coat/hair pigmentation Pahem1(IMPC)Tcp HOM Early adult 3.53×10-06
decreased exploration in new environment Pahem1(IMPC)Tcp HET Early adult 6.07×10-06
microphthalmia Pahem1(IMPC)Tcp HOM Early adult 0.00
small spleen Pahem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

108 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Gross Pathology and Tissue Collection

Images

17 Images

Eye Morphology

Images Slit Lamp

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Histopathology

Images

3 Images

Human diseases caused by Pah mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Seizure, Hypopigmentation of the sk... OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Microcephaly, Short stature, Melanocytic... ORPHA:2435
Gemignani Syndrome
Hypopigmented skin patches, Delayed puberty, Hypoplasia of penis, Impaired pain sensation, Short ... ORPHA:2074
Phenylketonuria
Hypopigmentation of the skin, Short attention span, Microcephaly, Ataxia, Abnormal cerebral white... ORPHA:716
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Short stature, Fr... ORPHA:241
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Dandy-Walker malformation, Athetosis, Hypopigmentation of the skin, Growth delay OMIM:257800
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Gombo Syndrome
Delayed puberty, Microphthalmia, Radial deviation of finger, Brachydactyly, Clinodactyly OMIM:233270
Lissencephaly 8
Hypoplasia of the corpus callosum, Microphthalmia, Delayed early-childhood social milestone devel... OMIM:617255
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Subcortical cerebral atrophy, Hypopigmentati... ORPHA:33445
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Gait disturbance, Hyperpigmentation of the skin ORPHA:2819
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, Thin corpus callosum, Highly arched eyebrow, Synophrys, Long eyelashes, Microce... OMIM:619286
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Microcephaly, Failure to thrive, Decrea... OMIM:616834
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Short attention span, C... ORPHA:411515
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Microcornea ORPHA:2432
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Microcephaly, Cerebral cortical atrophy, ... ORPHA:369939
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:3453
Phenylketonuria
Increased level of hippuric acid in urine, Cerebral calcification, Generalized hypopigmentation, ... OMIM:261600
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Delayed puberty, Hypospadias, Hypoplasia of penis, Generalized hypop... ORPHA:1816
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on M... ORPHA:527497
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract, Cerebral hypomyelination ORPHA:85163
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... OMIM:256710
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Agyria, Ataxia, Pachygyria, Agenesis of corpus callosum, Lissenceph... OMIM:300067
4H Leukodystrophy
Hypoplasia of the corpus callosum, Delayed puberty, Decreased response to growth hormone stimulat... ORPHA:289494
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, CNS hypomyelination, Failure to thrive, Leukodystrophy OMIM:616494
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Hypogonadism, Microcornea ORPHA:2528
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Partial albinism, Hypopigmentation of hair ORPHA:90023
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Microcornea, Microcephaly, F... OMIM:600118
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Classic Phenylketonuria
Hypopigmentation of hair, Memory impairment, Cerebral calcification, Hypopigmentation of the skin... ORPHA:79254
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Huppke-Brendel Syndrome
Cerebral atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copper... OMIM:614482
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Syndactyly, Brachydactyly, Peters anomaly, Cl... OMIM:610023
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Reduced cerebral whi... OMIM:616420
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Cessation of head growth, CNS demyelination, Primary gonadal ... OMIM:603896
Hereditary Methemoglobinemia
Abnormality of the nail, Frontal cortical atrophy, Delayed myelination, Microcephaly, Small basal... ORPHA:621
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on MRI, Abnormal circu... ORPHA:88618
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Synophr... OMIM:620317
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Increased serum serotonin, Small for gestational age ORPHA:85288
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Fragile nails, Abnormal cerebral white matter morphology, Fine hair, ... ORPHA:500166
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Reduced cerebral w... OMIM:613477
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Small nail, Progressive microcephaly, Delaye... OMIM:614261
Hsd10 Disease
Frontotemporal cerebral atrophy, Postnatal growth retardation, Focal white matter lesions, Short ... ORPHA:391417
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Hypoplasia of the corpus callosum, Thin corpus callosum, Microcephaly, Failure to thrive, Delayed... OMIM:616577
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Microphthalmia/Coloboma 10
Microphthalmia, Iris coloboma, Microcoria, Anophthalmia OMIM:616428
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, CNS hypomyelination OMIM:620425
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Delayed myelination, Hypothyroidism, Microcephaly, Failure to ... OMIM:610883
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Secondary microcephaly, Cereb... OMIM:618559
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Developmental And Epileptic Encephalopathy 86
Microcephaly, CNS hypomyelination, Small for gestational age OMIM:618910
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Synophrys, Delayed CNS myelination, Cataract... OMIM:619260
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Failure to thrive, CNS hypomye... OMIM:617951
Griscelli Syndrome Type 1
Premature graying of hair, Cerebral calcification, White hair, Iris hypopigmentation, Ataxia, Par... ORPHA:79476
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Failure to thrive, Microcephaly, Cerebral hypomyelination OMIM:300475
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Abnormality of hair... ORPHA:79351
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, CNS hypomyelination, Iris colo... OMIM:618012
Squalene Synthase Deficiency
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Increased circulating farnesol concent... OMIM:618156
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Elevated urinary aminoisobutyric acid, Methylmalonic acidemia,... OMIM:614105
Giant Axonal Neuropathy
CNS hypomyelination, Abnormal pituitary gland morphology, Pili canaliculi, Woolly hair ORPHA:643
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Microphthalmia OMIM:278780
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive, Abnormal fingernail morphology, Aminoaciduria ORPHA:2278
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopigment... OMIM:619165
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Precocious pu... ORPHA:79414
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Corneal opacity, Microcephaly, Hypergastrine... OMIM:252650
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Highly arched eyebrow, Progressive microcephaly, Lumbar hypertrichosis, Microcephaly, Low anterio... OMIM:618622
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypoplasia of the corpus callosum, Delayed puberty, Cerebral cortical atrophy, CNS hypomyelinatio... OMIM:607694
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia, Absent testis OMIM:613094
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Hypopigmentation of the skin OMIM:610798
Neurodevelopmental Disorder With Language Delay And Seizures
Thin corpus callosum, Hypothyroidism, Diffuse cerebral atrophy, Hypomagnesemia, CNS hypomyelination OMIM:619908
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Simp... OMIM:615760
Adams-Oliver Syndrome 4
Microphthalmia, Toenail dysplasia, Absent middle phalanx of the 3rd toe, Aplasia of the distal ph... OMIM:615297
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Mottl... ORPHA:79397
Leukodystrophy, Hypomyelinating, 5
Cerebral white matter atrophy, Developmental cataract, CNS hypomyelination, Onion bulb formation,... OMIM:610532
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, CNS hy... OMIM:214400
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Hyperammonemia, Lateral ventricle dilatation, CNS hypomyelinat... OMIM:610015
Al-Raqad Syndrome
Microcephaly, Hypopigmentation of the skin, Inability to walk, Gait ataxia OMIM:616459
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on MRI, Broad eyebrow,... ORPHA:481152
Kaya-Barakat-Masson Syndrome
Microcephaly, CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:619125
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Spasticity, Childhood-Onset, With Hyperglycinemia
Hypoplasia of the corpus callosum, Hyperglycinemia, Leukodystrophy OMIM:616859
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypoplasia of the corpus callosum, Delayed puberty, Abnormal basal ganglia morphology, Cerebral c... ORPHA:447896
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Hypergonadotropic hypogonadism ORPHA:88637
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Astigmatism OMIM:619328
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Brittle hair, Sparse eyebrow, Developmental cataract, Hypocholesterol... OMIM:618810
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Bullet-shaped distal phalanx of the hallux, Camptoda... ORPHA:1617
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Thin corpus callosum OMIM:619688
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Albini... OMIM:203200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Microcornea, Microcephaly, Simplified gyral pattern, Cataract, ... OMIM:616171
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Secondary microcephaly, Diffuse white matter abnormalities, Leukodystrophy, Microcephaly OMIM:616763
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination, Failure to thrive, Lissencephaly, Polymicrogyria OMIM:614883
Phakomatosis Pigmentovascularis
Hypopigmented skin patches, Cerebral calcification, Cognitive impairment, Cerebral cortical atrop... ORPHA:2875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Type II lissencephaly, Agyria, Corneal opacity, Elevated circulating creatine kin... OMIM:613153
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Short stature, Iris hypopigmentation, Hyp... ORPHA:177910
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Delayed myelination, Microcephaly, Pachygyria... OMIM:617613
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spott... ORPHA:79399
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Iri... OMIM:601706
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum, Elevated circulating C-reactive protein conce... OMIM:619423
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Mic... ORPHA:139471
Ddost-Cdg
Primary hypothyroidism, CNS hypomyelination, Failure to thrive ORPHA:300536
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Seizure, Abnormality of retinal pigmentation, Microphthalmia OMIM:251270
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Microphthalmia, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Pelizaeus-Merzbacher Disease
Thin corpus callosum, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelinat... OMIM:312080
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Hypopigmentation of the skin, Microcephaly, Short stature, Agenesis of corpus callosum ORPHA:261519
Null Syndrome
Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination ORPHA:280234
Mmep Syndrome
Split foot, Microphthalmia, Cryptorchidism, Triphalangeal thumb ORPHA:3434
Angelman Syndrome Due To A Point Mutation
Secondary microcephaly, Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentat... ORPHA:411511
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Focal-onset seizure, Microphthalmia, Erratic myoclonus, Focal moto... OMIM:308350
Cofs Syndrome
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Abnormality of r... ORPHA:1466
Oculocerebrocutaneous Syndrome
Seizure, Microphthalmia, Anophthalmia, Alopecia OMIM:164180
Developmental And Epileptic Encephalopathy 75
Hypoplasia of the corpus callosum, Secondary microcephaly, Frontal cortical atrophy, Cerebral cor... OMIM:618437
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Microcephaly, CNS hypomyelination, Thin corpus callosum OMIM:620023
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypoplasia of the corpus callosum, Thin corpus callosum, CNS hypomyelination, Hypogonadotropic hy... OMIM:614381
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Elevated circulating creatine kinase concentration, Microcepha... OMIM:616239
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Microphthalmia OMIM:274270
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Dyspl... OMIM:604213
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Small nail, Brittle hair, A... OMIM:234050
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplas... OMIM:169550
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Hyperintensity of cerebral white matter on MRI, Elevated plasma citrulline, Hype... ORPHA:3008
Nanophthalmos 4
Microphthalmia OMIM:615972
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Astigmatism, Microcephaly, Cerebral cortical atrophy, Pachygyria, CNS hypomyelination, Leukodystr... OMIM:619576
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, CNS hypomyelination, Leukoencephalopathy OMIM:615281
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification, Paresthesia OMIM:615361
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Stxbp1-Related Encephalopathy
Delayed myelination, Cerebral white matter atrophy, Dysplastic corpus callosum ORPHA:599373
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypoplasia of the corpus callosum, Secondary microcephaly, Gait imbalance, Hypopigmentation of ha... ORPHA:98794
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, CNS hypomyelination, Cachexia, Hypoplasia of the corpus callosum OMIM:618186
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Iris coloboma OMIM:120433
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination OMIM:618557
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Failure to thrive, Dysplastic corpus callosum OMIM:618276
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy OMIM:617560
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax... OMIM:277580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Heterochromia ... ORPHA:2885
Spastic Paraplegia 44, Autosomal Recessive
Hypoplasia of the corpus callosum, CNS hypomyelination OMIM:613206
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Sclerocornea, Cataract, CNS hypomyelination, P... OMIM:614230
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Microcephaly, Failure to thrive, Delayed CNS myelination, Hypoalbuminemia, Hypo... OMIM:608776
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hyperinsulinemia, Red hair, Hypopigmentation of the skin, Growth delay ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hyperinsulinemia, Red hair, Hypopigmentation of the skin, Growth delay ORPHA:71526
Orofaciodigital Syndrome Xvii
CNS hypomyelination, Decreased body weight OMIM:617926
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Peripheral hypomyelination, Microcornea, Cerebral cortical atrophy, Cataract, Hyp... ORPHA:48431
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Subcor... OMIM:615771
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Leukoencephalopathy, Leukodystrophy OMIM:614561
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Microphthalmia, Highly arched eyebrow, Microcornea, Sparse pubic... OMIM:110100
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... ORPHA:317
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches, Short stature, Ataxia, Abnormal urinary ... ORPHA:2116
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Hirsutism, Delayed myelination, CNS demyelination, Microcephaly, Diffuse cerebral... OMIM:214150
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Abnormal rib morphology, Hip dysplasia ORPHA:195
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Elevated circulating thyroid-stimulating hor... ORPHA:356961
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Iris coloboma OMIM:300915
Folinic Acid-Responsive Seizures
Delayed myelination, Frontotemporal cerebral atrophy, Cerebral hypomyelination ORPHA:79097
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia OMIM:616570
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Microphthalmia-Brain Atrophy Syndrome
Focal hyperkinetic seizure, Bilateral microphthalmos, Generalized myoclonic seizure, Generalized-... ORPHA:77299
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed CNS myelination OMIM:616158
Adenylosuccinase Deficiency
Cerebral atrophy, Microcephaly, Inappropriate laughter, CNS hypomyelination, Cerebral hypomyelina... OMIM:103050
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Secondary microcephaly, Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentat... ORPHA:98795
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Hypoplasia of the corpus callosum, Secondary microcephaly, Elevated circulating creatine kinase c... OMIM:617193
Pierpont Syndrome
Short finger, High anterior hairline, Microphthalmia, Microcornea, Prominent fingertip pads, Shor... ORPHA:487825
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Corneal dystrophy, Microcornea, Abnormality of skin pigmentation, Abnormal finger... ORPHA:1806
Weiss-Kruszka Syndrome
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Dysplastic corpus c... ORPHA:502430
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Hypointensity of cerebral white matter on MRI, Leukodystrophy OMIM:619196
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pattern, Pachygyria, CNS hypomy... OMIM:615966
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Camptodactyly, Sparse lateral eyebrow, Cataract, Down-sloping shoulders OMIM:619694
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation ORPHA:69125
Microphthalmia, Syndromic 8
Split foot, Microphthalmia, Cryptorchidism, Microcornea OMIM:601349
Rodrigues Blindness
Microphthalmia, Microcornea, Sclerocornea, Sparse hair, Fine hair OMIM:268320
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Pierpont Syndrome
Short finger, High anterior hairline, Microphthalmia, Microcornea, Prominent fingertip pads, Shor... OMIM:602342
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Cerebral atrophy, Leukodystrophy, Cerebral hypomyelination OMIM:608804
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimula... OMIM:618922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Microphthalmia, Elevated circulating creatine kinase concentra... OMIM:613155
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Microcephaly, Failure to thrive, Del... OMIM:309541
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Proximal placement of thumb, Bowing of the long b... ORPHA:93267
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Short metatarsal, Short metacarpal, Congenital hypothyroidism, Cryptorchidism, Short ph... OMIM:614613
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Microcephaly, Hypopigmentation of the skin, Intrauterine growth retardation ORPHA:261304
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Methionine Malabsorption Syndrome
Blue irides, Seizure, White hair OMIM:250900
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Simp... ORPHA:1942
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Failure to thrive in infancy, Delayed CNS myelination, Cataract, Hypoalbuminemia OMIM:618805
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Short stature, Growth ... OMIM:618541
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Short long bone, Corneal opacity, Short metacarpal,... ORPHA:85167
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Elevated circulating 2-trans,4-cis-decadieno... OMIM:616034
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Nephrotic syndrome, Hypopigmentation of the skin, Fair hair OMIM:269920
17Q12 Microduplication Syndrome
Seizure, Microphthalmia, Synophrys ORPHA:261272
Microphthalmia, Isolated 5
Cataract, Microphthalmia, Bone spicule pigmentation of the retina OMIM:611040
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Secondary microcephaly, Frontal hirsutism, Generalized hirsutism, Primary microcephaly, Cerebral ... OMIM:612949
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, M... OMIM:610202
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased ... OMIM:615830
Curry-Jones Syndrome
Hypopigmented skin patches, Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Gen... ORPHA:1553
Developmental And Epileptic Encephalopathy 29
Microcephaly, CNS hypomyelination, Cerebral atrophy, Failure to thrive OMIM:616339
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Leukodystrophy, Hypomyelinating, 6
Microcephaly, Leukodystrophy, Cerebral hypomyelination OMIM:612438
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Cryptorchidism, Hypogonadism ORPHA:363741
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebral hypomyelination, Delayed CNS myelin... OMIM:612164
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Poliosis, Cognitive impairment, Short stat... ORPHA:3437
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Thin corpus callosum, Microcephaly, Delayed CNS myelination, CNS hypomyelination, Paroxysmal burs... OMIM:619580
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Leber Congenital Amaurosis 1
Keratoconus, Hyperthreoninemia, Hyperthreoninuria, Cataract, Pigmentary retinopathy OMIM:204000
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination, Abnormal corpus callosum morphology, Hyperintensity of cerebral white matter... ORPHA:280229
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Combined Oxidative Phosphorylation Deficiency 11
Hypoplasia of the corpus callosum, Delayed myelination, Cerebral cortical atrophy, Pachygyria, CN... OMIM:614922
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypoplasia of the corpus callosum, Broad eyebrow, Highly arched eyebrow, Sacral hypertrichosis, M... ORPHA:457351
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Nail dystrophy, Microphthalmia, Highly arched eyebrow, Microce... OMIM:300887
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Camptodactyly of finger, Developmental cataract, Sparse hair,... OMIM:610756
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Failure to thrive, Steatorrhea, Hypocholesterol... OMIM:266510
Sandestig-Stefanova Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Highly arched eyebrow, Laterally extended eyeb... OMIM:618804
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches, Delayed puberty, Short stature, Abnormal localization of kidney ORPHA:1825
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hypoplasia of the corpus callosum, Microcephaly, Diffuse cerebral atrophy, Hyperintensity of cere... ORPHA:438114
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Elevated circulati... OMIM:615181
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Microphthalmia, Axillary pterygium, Absent distal phalanges, Corneal opacity... OMIM:619339
Fanconi Anemia, Complementation Group J
Microphthalmia, Multiple cafe-au-lait spots OMIM:609054
Alg3-Cdg
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cerebral white matter atrophy, Subc... ORPHA:79321
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Postnatal growth retardation, Ch... ORPHA:309246
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:247598
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Corneal opacity, Abnormality of retinal pigmentat... ORPHA:290
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum, Iris coloboma ORPHA:1777
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Thin ribs, Asplenia, Hypoplastic spleen, Brachydactyly OMIM:602361
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Severe short stature, Hyperpigmentation of the skin ORPHA:2251
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract ORPHA:324416
Hawkinsinuria
Microcephaly, Failure to thrive, Sparse hair, Hypertyrosinemia OMIM:140350
Vici Syndrome
Renal tubular acidosis, Hypopigmentation of the skin, Hypoplasia of the pons, Cerebral cortical a... ORPHA:1493
Congenital Toxoplasmosis
Seizure, Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty, Abnormal femoral neck/head morphology, Crumpled lon... ORPHA:2788
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Even-Plus Syndrome
Dysplastic corpus callosum, Highly arched eyebrow, Synophrys, Agenesis of corpus callosum, Sparse... OMIM:616854
Pontocerebellar Hypoplasia, Type 7
Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Hypopigmentation o... OMIM:614969
Angelman Syndrome
Secondary microcephaly, Broad-based gait, Hypopigmentation of the skin, Cerebral cortical atrophy... OMIM:105830
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Agenesis of cor... OMIM:615095
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Keratoconjunctivitis sicca, Small for gesta... OMIM:601675
Alg12-Cdg
Hypoplasia of the corpus callosum, Small nail, Cavum septum pellucidum, Progressive microcephaly,... ORPHA:79324
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Microcephaly, White ... OMIM:148820
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fus... ORPHA:95699
Galloway-Mowat Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Renal insufficiency,... OMIM:251300
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Abnormal circulating testosterone concentration, Infertility, Hirsutism, Oligozo... ORPHA:786
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Hypoplasia of the corpus callosum, Hirsutism, Microcephaly, Leukodystrophy OMIM:618006
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Thin corpus callosum, Microcephaly, Hypothyroidism, Cataract, Leukodystrophy OMIM:619851
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase concentration, Ab... ORPHA:96180
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Clinodactyly of the 5th fin... ORPHA:999
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Cerebral calcification, Hypopigmentation of the skin,... OMIM:219800
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Scarring alopecia of scalp, Abnormality of the nail, Epiphyseal stippling, Microc... ORPHA:35173
Kaufman Oculocerebrofacial Syndrome
Hypoplasia of the corpus callosum, Astigmatism, Microcornea, Microcephaly, Failure to thrive, Spa... OMIM:244450
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Failure to thrive, Pachygyria, Abnormal... ORPHA:280210
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrog... ORPHA:171680
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Postaxial hand polydactyly, Camptodactyly, Brachydact... OMIM:136760
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Microphthalmia, Brittle hair, Tiger tail banding, Failure to thrive, Develo... OMIM:616395
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Seizure, Microphthalmia OMIM:613730
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, CNS hypomyelination, Cachexia ORPHA:300605
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hypoplasia of the corpus callosum, Secondary microcephaly, Hirsutism, Elevated circulating creati... ORPHA:496641
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Hyperpigmentation ... ORPHA:79473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Progressive microcephaly, Type II lissencephaly, Agyria, ... OMIM:615249
Moebius Syndrome
Microphthalmia, Radial deviation of finger, Abnormality of the nail, Split hand, Abnormal pelvic ... OMIM:157900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Leukodystrophy, Childhood-Onset, Remitting
Abnormal cerebral white matter morphology, Leukodystrophy OMIM:619864
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypopla... OMIM:300863
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Leukodystrophy, Hypomyelinating, 12
Secondary microcephaly, Hypoplasia of the corpus callosum, Delayed myelination, Microcephaly, Cer... OMIM:616683
Adams-Oliver Syndrome 2
Cerebral atrophy, Microphthalmia, Small nail, Polymicrogyria, Microcephaly, Developmental catarac... OMIM:614219
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Seizure, Microphthalmia OMIM:614583
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebral atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Cataract, CNS... OMIM:615356
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Menkes Disease
Microcephaly, Hypopigmentation of the skin, Intrauterine growth retardation, Short stature OMIM:309400
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination, Progressive microcephaly OMIM:618863
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Short attention span, Microcephaly, Short stature, Elevated circula... OMIM:608747
Combined Saposin Deficiency
CNS demyelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal... OMIM:611721
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Microcornea, Iris coloboma ORPHA:231736
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Glomerulopathy, Short stature, Abnormality of retinal pigmentation, P... ORPHA:2715
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Abnormal hair morphology, Subcapsular cataract, Cataract, Aminoaciduria ORPHA:414
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Corneal opacity, Aplasia/Hypoplasia of the nails, Sparse hair, Leukodystrop... ORPHA:3455
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination, Focal white matter lesions, Cerebral calcification, Microcephaly, Leuko... OMIM:612951
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Hypoplasia of the corpus callosum, Beta-aminoisobutyric aciduria, Polymicrogyri... OMIM:615330
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Polymicrogyria, Microc... OMIM:614222
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Optic disc hypoplasia, Elevated circulating creatine kinase concentra... OMIM:619955
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Type II lissencephaly, Polym... ORPHA:370959
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... OMIM:206920
Peroxisome Biogenesis Disorder 8B
Corpus callosum atrophy, Elevated circulating phytanic acid concentration, Failure to thrive, Abn... OMIM:614877
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Generalized hypopigmentation, White hair, Short stature, Iris h... ORPHA:2720
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Cryptorchidism, Unila... ORPHA:261529
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Polymicrogyria, Abnormality of skin pigmentation, Failure to thrive, Cataract, Hy... OMIM:612379
Brittle Cornea Syndrome 1
Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Congenital hip dislocation, Abn... OMIM:229200
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Renal insuff... OMIM:203300
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Sparse scalp hair, Hypophosphatemia, Cataract, Abnormal cornea m... ORPHA:2611
Temtamy Syndrome
Microphthalmia, Highly arched eyebrow, Lens luxation, Ectopia lentis, Agenesis of corpus callosum... OMIM:218340
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Increased circulating very long-chain fatty acid concentration, Leukodystrophy,... OMIM:617916
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Tyrosinemia, Type Ii
Herpetiform corneal ulceration, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Red hair OMIM:620195
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, 2-3 toe syndactyly, Microcornea, Long eyelashes, Precocious puberty... OMIM:615877
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Astigma... ORPHA:268261
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Galactosemia I
Increased level of galactitol in red blood cells, Increased level of galactitol in plasma, Hyperg... OMIM:230400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Cavum septum pellucidum, Generalized hypopigmentat... OMIM:617306
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons... OMIM:609734
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Corneal ulceration, Hypotriglyceridemia, Hy... ORPHA:14
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Alopecia, Postaxial hand polydactyly, Decreased testicula... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Microphthalmia, Cerebral calcification, Polymicrogyria, Agyria... OMIM:616538
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Decreased bod... OMIM:614833
Oculofaciocardiodental Syndrome
Microphthalmia, Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Highly arched eyebrow, 2-... ORPHA:2712
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Fucosidosis
Cerebral atrophy, Failure to thrive, Thick eyebrow, CNS hypomyelination, Tortuosity of conjunctiv... OMIM:230000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Seizure, Microphthalmia OMIM:602501
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Microphthalmia, Ridged nail, Breast aplasia, O... OMIM:308300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Severe short stature ORPHA:3239
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:615524
Dpagt1-Cdg
Hypoplasia of the corpus callosum, Astigmatism, Microcephaly, Cerebral cortical atrophy, Failure ... ORPHA:86309
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Decreased response to growth hormone stimulation test, Optic nerve h... OMIM:609053
Walker-Warburg Syndrome
Microphthalmia, Abnormal cortical gyration, Anophthalmia, Polymicrogyria, Microcornea, Corneal op... ORPHA:899
Nance-Horan Syndrome
Cataract, Microphthalmia, Short metacarpal, Microcornea ORPHA:627
Trisomy 13
Microphthalmia, Anophthalmia, Abnormal eyelash morphology, Postaxial hand polydactyly, Ectrodacty... ORPHA:3378
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Microphthalmia, Microcornea, Limbal dermoid, Brushfield spots,... ORPHA:1791
Garg-Mishra Progeroid Syndrome
Microphthalmia, Small nail, Slender long bone, Thin ribs, Cafe-au-lait spot, Slender metacarpals,... OMIM:620601
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Marbach-Rustad Progeroid Syndrome
Microcephaly, CNS hypomyelination, Hyperintensity of cerebral white matter on MRI OMIM:619322
Hyperphosphatasia-Intellectual Disability Syndrome
Small nail, Highly arched eyebrow, Shallow anterior chamber, Supernumerary nipple, Cerebral hypom... ORPHA:247262
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Microphthalmia, Flared metaphysis, Metaphyseal cuppin... OMIM:608940
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, CNS hypomyelination ORPHA:309155
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Microcephaly, Failure to thrive, Abnormal CNS myelination, Hypoplasia of the corpus callosum ORPHA:477673
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Microcephaly, Simp... OMIM:152950
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Hyperpigmentation of... OMIM:129500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating inhibin B concentration, Delayed puberty, Impaired temperature sensation, H... ORPHA:98754
Dubowitz Syndrome
Microphthalmia, Megalocornea, Sparse scalp hair, Hypoplasia of the iris, Sparse lateral eyebrow, ... OMIM:223370
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Short metacarpal, Low posterior hairline, Osteopathia striata, Meta... OMIM:212720
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Angelman Syndrome
Cerebral dysmyelination, Inability to walk, Broad-based gait, Hypopigmentation of the skin, Delay... ORPHA:72
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Microcornea, Hirsutism... OMIM:615663
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:1528
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Ecto... OMIM:610125
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormality of the frontal hairline, Focal white matter lesions, Hypo... ORPHA:557003
Baraitser-Winter Syndrome 1
Microphthalmia, Highly arched eyebrow, Low posterior hairline, Microcephaly, Failure to thrive, A... OMIM:243310
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Macrocephaly, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Microcornea, Persistent pupi... OMIM:257850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Buphthalmos, Microcornea, Persistent pupillary membrane, Corneal opacity, Shallow... OMIM:221900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating inhibin B concentration, Delayed puberty, Impaired temperature sensation, H... ORPHA:98793
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Hypoplasia of the corpus callosum, CNS demyelination, Cerebral cortical atrophy, Basal ganglia ca... OMIM:618193
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albi... OMIM:203100
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Microcephaly, Overfriendliness, Dysplastic corpus callosum OMIM:618010
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Hyperintensity of cerebral white matter on MRI, Thin corpus callosum, Polymicrogyria, CNS hypomye... OMIM:619708
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Seizure, Iris hypopigmentation, Partial albi... ORPHA:79477
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2