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Gene: Pah MGI:97473

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Gene Summary

Name:
phenylalanine hydroxylase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 sternum morphology Pahem1(IMPC)Tcp HET Early adult 0.00
abnormal coat/hair pigmentation Pahem1(IMPC)Tcp HOM Early adult 4.32×10-06
decreased exploration in new environment Pahem1(IMPC)Tcp HET Early adult 6.07×10-06
small adrenal glands Pahem1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Pahem1(IMPC)Tcp HOM   Early adult 0.00
small spleen Pahem1(IMPC)Tcp HET Early adult 0.00
microphthalmia Pahem1(IMPC)Tcp HOM Early adult 0.00
female infertility Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal cornea morphology Pahem1(IMPC)Tcp HOM Early adult 1.06×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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Eye Morphology

Images Slit Lamp

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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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
Hypopigmentation of the skin, Seizure, White eyelashes, Accumulation of melanosomes in melanocyte... OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Short stature, Hypopigmented skin patches, Microc... ORPHA:2435
Gemignani Syndrome
Short stature, Hypoplasia of penis, Ataxia, Hypopigmented skin patches, Impaired pain sensation, ... ORPHA:2074
Dyschromatosis Universalis Hereditaria
Short stature, Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-l... ORPHA:241
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair, Growth delay, Athetosis, Dandy-Walker malformation OMIM:257800
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Lissencephaly 8
Delayed speech and language development, Agyria, Cerebral hypomyelination, Absent speech, Elevate... OMIM:617255
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... ORPHA:2779
Gombo Syndrome
Clinodactyly, Delayed puberty, Radial deviation of finger, Microphthalmia, Brachydactyly OMIM:233270
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... OMIM:620058
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Cerebral cortical atrophy, Subcortical cerebral atrophy, Premature ... ORPHA:33445
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Frontal upsweep of hair, Synophrys, Thin corpus callosum, Simplified gyral pattern, Long eyelashe... OMIM:619286
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Gait disturbance, Hypopigmented skin patches ORPHA:2819
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Silver-gray hair, Melan... OMIM:607624
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Lateral ventricle dilatation, Cerebral hypomyelin... ORPHA:79326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Developmental cataract, Failure to thrive, Delayed puber... OMIM:616834
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Delayed speech and language development, Increased serum serotonin, Ab... ORPHA:85288
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Decreased circulating ceruloplasmin concentration, Developmental cataract, Decreased circulating ... OMIM:614482
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Cerebellar hypoplasia, Ataxia, Postnatal growth retardation OMIM:616113
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Developmental And Epileptic Encephalopathy 93
Absent speech, Iris coloboma, Microcephaly, CNS hypomyelination, Cerebral atrophy, Hypoplasia of ... OMIM:618012
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea OMIM:251505
Potocki-Lupski Syndrome
Hypothyroidism, Delayed myelination, Echolalia, Small for gestational age, Failure to thrive, Mic... OMIM:610883
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Reduced cerebral white matter volume, Leukodystrophy, Prominent eyelas... OMIM:616420
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Cerebral hypomyelination, Failure to thrive, Cerebral white matter atr... ORPHA:369939
Developmental And Epileptic Encephalopathy 86
Small for gestational age, Microcephaly, CNS hypomyelination, Absent speech OMIM:618910
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hyperintensity of cerebral white matter on MRI, Leukodystrophy, Hirsutism, Cerebral atrophy, CNS ... ORPHA:527497
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Developmental cataract ORPHA:85163
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Decreased fertility, Irregular hyperpigmentation, Generalized hypopigmentation, Short stature, Hy... ORPHA:1816
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thin corpus callosum, Absent speech, Failure to thrive, Delayed CNS myelination, Microcephaly, CN... OMIM:616577
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microphthalmia, Microcornea ORPHA:2432
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Lissencephaly, Ataxia, Pachygyria, Micropenis, Postnatal gro... OMIM:300067
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Microcephaly ORPHA:2513
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Hyperin... ORPHA:289494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hidrotic Ectodermal Dysplasia
Brittle scalp hair, Slow-growing nails, Clubbing of fingers, Absent pubic hair, Generalized hypot... ORPHA:189
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Failure to thrive, Leukodystrophy, CNS hypomyelination OMIM:616494
Autoimmune Polyendocrinopathy Type 1
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Primary ... ORPHA:3453
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Developmental cataract, Microcornea, Failure to thrive, Delayed CNS m... OMIM:600118
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... OMIM:256710
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Short stature ORPHA:90023
Hereditary Methemoglobinemia
Delayed myelination, Small for gestational age, Cerebral hypomyelination, Abnormality of the nail... ORPHA:621
Leukoencephalopathy With Vanishing White Matter 1
Primary gonadal insufficiency, Leukoencephalopathy, Decreased circulating progesterone, Cerebral ... OMIM:603896
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Abnormal cerebral white matter morphology, Mild malformation of cortical development, ... ORPHA:500166
Woolly Hair
Abnormal pupil morphology, Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woo... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Hypogonadism, Microcornea ORPHA:2528
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Delayed myelination, Hyperintensity of cerebral white matter on MRI, Abnormal... ORPHA:88618
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, Reduced cerebral white matter volume, Progressive microcephaly, Microc... OMIM:613477
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Thin corpus callosum, Delayed speech and language development, Diffuse cerebral a... OMIM:619908
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Kaya-Barakat-Masson Syndrome
Delayed speech and language development, Microcephaly, CNS hypomyelination, Cerebral atrophy, Hyp... OMIM:619125
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
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Progesterone Resistance
Female infertility OMIM:264080
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
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
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Mucolipidosis Iv
Cerebral dysmyelination, Absent speech, Corneal opacity, Microcephaly, Dysplastic corpus callosum... OMIM:252650
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters anomaly, Micr... OMIM:610023
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Abnormality of hair pigmentation, Elevated circulating m... OMIM:618156
Classic Phenylketonuria
Hypopigmentation of the skin, Motor deterioration, Cerebral calcification, Hypopigmentation of ha... ORPHA:79254
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Delayed speech and language development, CNS hypomyelination OMIM:619328
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Multiple Mitochondrial Dysfunctions Syndrome 4
Abnormal periventricular white matter morphology, Leukodystrophy, Absent speech OMIM:616370
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Frontotemporal cerebral atrophy, Secondary microcephaly, CNS hypomyeli... OMIM:618559
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Leukoencephalopathy, Synophrys, Cataract, Delayed CNS myelination, Cerebral atrophy, CNS hypomyel... OMIM:619260
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Short stature ORPHA:2786
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Cessation of head growth, Ataxia, Hypopigmen... ORPHA:411515
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, Failure to thrive, Microcephaly, CNS hypomyelination, Cerebral atrophy, Hypoplasi... OMIM:617951
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Pe... ORPHA:1067
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, Cerebral calcification, Ataxia, White hair, Par... ORPHA:79476
Deafness, Dystonia, And Cerebral Hypomyelination
Failure to thrive, Cerebral hypomyelination, Microcephaly, Cerebral atrophy OMIM:300475
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, Developmental cataract, Cerebral white matter atrophy, CNS ... OMIM:610532
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Absent speech, Microcornea, Cataract, Partial agenesis of the corpus ca... OMIM:616171
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Lateral ventricle dilatation, Methylmalonic acidemia, Thin... OMIM:614105
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hyperintensity of cerebral white matter on MRI, Broad eyebrow, Absent speech, Failure to thrive, ... ORPHA:481152
Giant Axonal Neuropathy
Abnormality of the pituitary gland, Pili canaliculi, CNS hypomyelination, Woolly hair ORPHA:643
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Microphthalmia OMIM:278780
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Failure to thrive, Cataract, Aminoaciduria ORPHA:2278
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Hypertriglyceridemia, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Microcoria, Iris coloboma, Anophthalmia OMIM:616428
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spasticity, Childhood-Onset, With Hyperglycinemia
Hypoplasia of the corpus callosum, Leukodystrophy, Hyperglycinemia OMIM:616859
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Leukodystrophy, Delayed puberty, CNS hypomyelination, Hypoplasia of th... OMIM:607694
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Simplified gyral pattern, Lumbar hypertrichosis, Diabetes mellitus, Progressive microcephaly, Mic... OMIM:618622
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Simplified gyral pattern, Progressive microcephaly, Microcephaly, Cerebral atrophy, CNS hypomyeli... OMIM:615760
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Hyposerinemia, Hypogonadism, Hypoglycinemia, Primary microcephaly, Abnormal ... ORPHA:79351
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Hsd10 Disease
Frontotemporal cerebral atrophy, Elevated urinary 3-hydroxybutyric acid, Choreoathetosis, Gait di... ORPHA:391417
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:214400
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Thin corpus callosum, Microcephaly, CNS hypomyelination, Absent speech OMIM:620023
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Thin corpus callosum, Cerebral hypomyelination, Leukodystrophy, Delayed speech and language devel... OMIM:614381
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Absent speech, Secondary microcephaly, CNS hypomyelination, Hypoplasia... OMIM:618437
Phenylketonuria
Generalized hypopigmentation, Fair hair, Cerebral calcification, Increased level of hippuric acid... OMIM:261600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Pelizaeus-Merzbacher Disease
Sudanophilic leukodystrophy, Thin corpus callosum, Abnormal CNS myelination, Delayed speech and l... OMIM:312080
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Ret... ORPHA:79397
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Woolly Hair Nevus
Precocious puberty, Curly hair, Patchy hypopigmentation of hair, Fine hair, Congenital posterior ... ORPHA:79414
Tremor-Ataxia-Central Hypomyelination Syndrome
Cerebral cortical atrophy, Leukodystrophy, Delayed puberty, Hypoplasia of the corpus callosum, CN... ORPHA:447896
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, CNS hypomyelination ORPHA:88637
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy, Elevated circulating creatine kinase concentration, Microcep... OMIM:617613
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... OMIM:246700
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Thin corpus callosum, CNS hypomyelination OMIM:619688
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Mi... ORPHA:1617
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Secondary microcephaly, Microcephaly, Diffuse white matter abnormalities OMIM:616763
Phakomatosis Pigmentovascularis
Cerebral cortical atrophy, Cognitive impairment, Paresthesia, Cerebral calcification, Generalized... ORPHA:2875
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Hypoplastic toenails, Toenail dysplasia, ... OMIM:615297
Glutamine Deficiency, Congenital
Hypoglutaminemia, Lateral ventricle dilatation, Hyperammonemia, CNS hypomyelination, Hypoplasia o... OMIM:610015
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination, Failure to thrive, Lissencephaly, Polymicrogyria OMIM:614883
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Developmental cataract, Hypocholesterolemia, Dysplastic corpus call... OMIM:618810
Microphthalmia, Isolated 4
Absent testis, Microphthalmia, Postaxial polydactyly OMIM:613094
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Absent speech OMIM:618276
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Secondary microcephaly, Elevated circulating C-reactive protein concentration,... OMIM:619423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Simplified gyral pattern, Agyria, Agenesis of corpus callosum, Lissencephaly, Elevated circulatin... OMIM:613153
Dihydropyrimidine Dehydrogenase Deficiency
Delayed speech and language development, Failure to thrive, Microphthalmia, Microcephaly, Cerebra... OMIM:274270
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Primary microcephaly, Thin corpus callosum, Delayed speech and language dev... OMIM:615771
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Leukodystrophy, Absent speech, Astigmatism, Microcephaly, CNS hypomyel... OMIM:619576
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:89838
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Short stature, Iris hypopigmentation, Hypopigmentation of hair, Hyp... ORPHA:177910
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Orofaciodigital Syndrome Xvii
Delayed speech and language development, Decreased body weight, CNS hypomyelination OMIM:617926
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... ORPHA:79399
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Cachexia, Microcephaly, CNS hypomyelination OMIM:618186
Al-Raqad Syndrome
Gait ataxia, Hypopigmentation of the skin, Microcephaly, Inability to walk OMIM:616459
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Ddost-Cdg
Failure to thrive, CNS hypomyelination, Primary hypothyroidism ORPHA:300536
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Periventricular cysts, Hyperintensity of cerebral white matter on MRI, Increased ... ORPHA:3008
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Leukodystrophy, Failure to thriv... OMIM:616034
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Microcephaly, CNS hypomyelination, Hypoplasia... OMIM:616239
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Seizure, Microphthalmia, Abnormality of retinal pigmentation OMIM:251270
Null Syndrome
Demyelinating peripheral neuropathy, Peripheral demyelination, CNS hypomyelination ORPHA:280234
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Short stature, Azoospermia, Microcephaly, Agenesis of corpus callosum ORPHA:261519
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, Leukoencephalopathy, CNS hypomyelination OMIM:615281
Oculocerebrocutaneous Syndrome
Microphthalmia, Alopecia, Seizure, Anophthalmia OMIM:164180
Cofs Syndrome
Cerebral cortical atrophy, Hypogonadism, Cerebral calcification, Abnormality of retinal pigmentat... ORPHA:1466
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Dysplastic corpus cal... OMIM:604213
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Focal motor seizure, Focal-onset seizure, Generalized myoclonic seizure, Tonic... OMIM:308350
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination, Absent speech OMIM:616158
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... OMIM:217300
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Basal ganglia calcification, Postnatal growth retardation OMIM:615361
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia, Cryptorchidism ORPHA:3434
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microcornea, Iris coloboma, Cataract... ORPHA:139471
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Corneal neovascularization, Abnormal corneal lim... ORPHA:2334
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Gait imbalance, Mild microcephaly, Iris hypopigmentation, Cessation... ORPHA:411511
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Sparse eyebrow, Synophrys, Delayed speech and language development, Diffuse cerebral atrophy, Abs... OMIM:617193
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Biemond Syndrome Type 2
Hypogonadism, Delayed puberty, Preaxial polydactyly, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:141333
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... OMIM:601706
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Microcornea, Increase... OMIM:110100
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Small nail, Trichorrhexis nodosa, Brittle hair, Keratoconjunctivitis sicca, ... OMIM:234050
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Severe expressive language delay, Primary microcephaly, Broad eyebrow,... ORPHA:457351
Triokinase And Fmn Cyclase Deficiency Syndrome
Delayed speech and language development, Cataract, Delayed CNS myelination, Microphthalmia, Failu... OMIM:618805
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Microphthalmia, CNS hypomyelination, Hypoplasia of the corpus callosum, Pigmentary reti... OMIM:614230
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination OMIM:618557
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Delayed myelination, Absent speech, CNS hypomyelination, Pachygyria, H... OMIM:614922
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Cerebral hypomyelination, Delayed speech and language development, Microcephaly OMIM:612438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Elevated circulating creatine kinase concentration, Absent speech, Microc... OMIM:613155
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Wh... OMIM:277580
Pierpont Syndrome
High anterior hairline, Abnormal cortical gyration, Primary microcephaly, Small for gestational a... ORPHA:487825
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Long eyelashes, Microcornea, Cataract, Microphthalmia, Hypogonadotropic ... ORPHA:48431
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Absent speech, Delayed CNS myelination, Cerebral atrophy, Hypoplasia of... OMIM:612164
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Ataxia, Hypopigmented skin patches, Hypopigmentation of hair, Hetero... ORPHA:2885
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukoencephalopathy, Leukodystrophy, Cerebral calcification OMIM:614561
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Congenital hip dislocat... OMIM:169550
Developmental Delay With Variable Neurologic And Brain Abnormalities
Sparse lateral eyebrow, Thin corpus callosum, Delayed speech and language development, Astigmatis... OMIM:619694
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Primary microcephaly, Cerebral hypomyelination, Frontal hirsutism, Absent speech, Secondary micro... OMIM:612949
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Hyperinsulinemia, Delayed puberty, Growth delay, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Hyperinsulinemia, Delayed puberty, Growth delay, Red hair ORPHA:71526
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity, Microphthalmia ORPHA:1473
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hyperintensity of cerebral white matter on MRI, Cerebral hypomyelination, Diffuse cerebral atroph... ORPHA:438114
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta... OMIM:611584
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Weight loss, Abnormality of the nail, Diabetes mellitus, C... ORPHA:317
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Small for gestational age, CNS demyelination, Diffuse cerebral atrophy, Fail... OMIM:214150
Folinic Acid-Responsive Seizures
Cerebral hypomyelination, Delayed myelination, Frontotemporal cerebral atrophy ORPHA:79097
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Female infertility, Amenorrhea, Oligomen... OMIM:617442
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Pierpont Syndrome
High anterior hairline, Decreased body weight, Delayed speech and language development, Microcorn... OMIM:602342
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Hypointensity of cerebral white matter on MRI OMIM:619196
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Simplified gyral pattern, Microcephaly, CNS hypomyelination, Pachygyria, Hypoplasia of the corpus... OMIM:615966
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot OMIM:616570
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Cessation of head growth, Hy... ORPHA:98795
Adenylosuccinase Deficiency
Delayed speech and language development, Cerebral hypomyelination, Microcephaly, CNS hypomyelinat... OMIM:103050
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Iris coloboma, Microphthalmia ORPHA:195
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral hypomyelination, Demyelinating motor neuropathy, Cerebral atrophy OMIM:608804
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation ORPHA:69125
Microphthalmia, Syndromic 13
Iris coloboma, Microphthalmia, Microcornea OMIM:300915
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Echolalia, Thin corpus callosum, Delayed speech and language development, Absent speech, Delayed ... OMIM:619580
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Generalized myoclonic seizure, Focal hyperkinetic seizure, Bilateral m... ORPHA:77299
Leukodystrophy, Hypomyelinating, 17
Leukodystrophy, Absent speech, Hirsutism, Microcephaly, Cerebral atrophy, Hypoplasia of the corpu... OMIM:618006
Myoclonic-Astatic Epilepsy
Focal-onset seizure, Generalized myoclonic seizure, Generalized myoclonic-atonic seizure, Simple ... ORPHA:1942
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Decreased response to growth hormone stimulation test, Hippocampal atrophy, Panhy... OMIM:618922
Congenital Varicella Syndrome
Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly ORPHA:291
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Fine hair, Microcornea, Abnormal fi... ORPHA:1806
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Intrauterine growth retardation, Microcephaly ORPHA:261304
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Microphthalmi... OMIM:610256
Hartnup Disease
Irregular hyperpigmentation, Short stature, Neutral hyperaminoaciduria, Ataxia, Hypopigmented ski... ORPHA:2116
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Delayed speech and language development, Abnormal CNS myelination, Cerebral ... OMIM:612951
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Short stature, Reduced renal corticomedullary di... OMIM:618541
Methionine Malabsorption Syndrome
White hair, Blue irides, Seizure OMIM:250900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Gait imbalance, Mild microcephaly, Iris hypopigmentation, Cessation... ORPHA:98794
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Cerebral hypomyelination, Macrogyria, Absent speech, Failure to thrive, Con... ORPHA:280210
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Retinal Dystrophy With Leukodystrophy
Delayed speech and language development, Progressive microcephaly, CNS hypomyelination OMIM:618863
Developmental And Epileptic Encephalopathy 29
CNS hypomyelination, Failure to thrive, Microcephaly, Cerebral atrophy OMIM:616339
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Hyperhomocystinemia, Failure to thrive, Delayed CNS myelination, Microcep... OMIM:309541
Slc35A2-Cdg
Hypopigmentation of the skin, Inability to walk, Short stature, Transient nephrotic syndrome, Abn... ORPHA:356961
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Proximal placement of thumb, Microphthalmia, Abnormal rib morphology, Abnormal metaphys... ORPHA:93267
Piebaldism
Piebaldism, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White forelock, H... ORPHA:2884
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot, Microphthalmia, Microcornea OMIM:601349
Rodrigues Blindness
Fine hair, Microcornea, Microphthalmia, Sparse hair, Sclerocornea OMIM:268320
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Cerebral hypomyelination, Absent speech, Secondary microcephaly, Microcephal... OMIM:616683
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Delayed speec... ORPHA:96180
Infantile Sialic Acid Storage Disease
Fair hair, Hypopigmentation of the skin, Cerebral atrophy, Nephrotic syndrome OMIM:269920
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Steatorrhea, Elevated circulating phytanic acid concentra... OMIM:266510
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Cataract, Microphthalmia OMIM:611040
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Narrow greater sciatic notch, Metaphyseal irregularity, Bowing of the le... ORPHA:85167
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination, Abnormal corpus callosum morphology, Hyperintensity of cerebral white matter... ORPHA:280229
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Advanced ossification of carpal bones, Red hair, Short metacarpal, Fair ... OMIM:614613
Hawkinsinuria
Hypertyrosinemia, Failure to thrive, Sparse hair, Microcephaly OMIM:140350
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Vogt-Koyanagi-Harada Disease
Cognitive impairment, Premature graying of hair, Short stature, Hypopigmented skin patches, Vitil... ORPHA:3437
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Increased circulating very long-chain fatty acid concentration, Delayed speech an... OMIM:617916
Congenital Primary Aphakia
Sclerocornea, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Conge... ORPHA:83461
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Delayed speech and language development, Lissencephaly, Optic nerve hypopl... OMIM:614833
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Trichothiodystrophy 1, Photosensitive
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Small for gestati... OMIM:601675
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Di... OMIM:615830
Alg12-Cdg
Small nail, Delayed myelination, Cavum septum pellucidum, Delayed speech and language development... ORPHA:79324
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Developmental cataract, Cataract, Microcephaly, Microphthalmia, Sparse... OMIM:610756
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... OMIM:605814
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Sparse eyebrow, Cerebral cortical atrophy, Primary microcephaly, Cerebral hypomyelination, Absent... ORPHA:496641
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Absent speech, Microcornea, Failure to thrive, Astigmatism, Microcephaly, Hypopla... OMIM:244450
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Sandestig-Stefanova Syndrome
Primary microcephaly, Small for gestational age, Developmental cataract, Sparse medial eyebrow, D... OMIM:618804
Adams-Oliver Syndrome 2
Alopecia, Small nail, Lateral ventricle dilatation, Delayed speech and language development, Deve... OMIM:614219
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Abnormal localization of kidney, Short stature, Hypopigmented skin patches ORPHA:1825
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Axillary pterygium, Antecubital pterygium, Popliteal... OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, ... OMIM:615181
17Q12 Microduplication Syndrome
Synophrys, Seizure, Microphthalmia ORPHA:261272
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Hypopigmented ski... ORPHA:1553
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:363741
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Alg3-Cdg
Hypopigmentation of the skin, Subcortical cerebral atrophy, Abnormal cerebral morphology, Hypopla... ORPHA:79321
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, Microcephaly, CNS hypomyelination OMIM:618367
Gracile Bone Dysplasia
Asplenia, Slender long bone, Flared metaphysis, Brachydactyly, Hypoplastic spleen, Thin ribs OMIM:602361
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Developmental cataract, Microcornea, Absent speech, Shallow anterior c... OMIM:614222
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Vici Syndrome
Hypopigmentation of the skin, Cerebral cortical atrophy, Renal tubular acidosis, Short stature, C... ORPHA:1493
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Primary microcephaly, Small for gestational age, Simplified... OMIM:615095
Congenital Toxoplasmosis
Seizure, Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Abnormality of retinal pigmentation, Ca... ORPHA:290
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Thin corpus callosum, Leukodystrophy, Cataract, Microcephaly, Cerebral atrophy OMIM:619851
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Absent speech, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of corp... ORPHA:250972
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Humeroradial synostosis, Narr... ORPHA:95699
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, White forelock, Heterochromia iridis, Blue... OMIM:148820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy, Agyria, Cerebral calcification, Absent speech, Elevated circulating creatine kina... OMIM:616538
Bresek Syndrome
Alopecia, Decreased testicular size, Optic nerve hypoplasia, Iris coloboma, Microphthalmia, Crypt... ORPHA:85284
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Iris coloboma, Microphthalmia, Brachydactyly ORPHA:1777
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract ORPHA:324416
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin, Hypoplasia of the brainstem, Cerebellar hypoplasia, Choreoathetosis... OMIM:614969
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hyperpigmentation of the skin, Severe short stature, Hypopigmented skin patches ORPHA:2251
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Cognitive impairment, Punctate periventricular T2 hyperinte... ORPHA:309246
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Delayed speech and language development, Abnormal CNS myelination, Failure to thrive, Microcephal... ORPHA:477673
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Neonatal death, Microphthalmia, Cryptorchidism OMIM:613730
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Isosexual precocious puberty, Abnormal lower limb bone morphology, Abnormal ... ORPHA:2788
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Microcephaly, CNS hypomyelination ORPHA:300605
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Perisylvian polymicrogyria, Delayed speech and language development, D... OMIM:615663
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Hypoplasia of the brainstem, Short stature, Nephrotic syndrome, Ata... OMIM:251300
Cystinosis, Nephropathic
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Nephrolithiasis, Microscopic ... OMIM:219800
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair, Developmental cataract, Failure to thrive... OMIM:616395
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Alopecia, Increased circulating cortisol level, Type II diabetes mellitus... ORPHA:189439
Lissencephaly Due To Tuba1A Mutation
Perisylvian polymicrogyria, Agyria, Dysgenesis of the basal ganglia, Lissencephaly, Optic nerve h... ORPHA:171680
Dpagt1-Cdg
Cerebral cortical atrophy, Delayed speech and language development, Developmental cataract, Absen... ORPHA:86309
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Ermine Phenotype
Irregular hyperpigmentation, Short stature, Ocular albinism, Iris hypopigmentation, Hypopigmented... ORPHA:999
Combined Saposin Deficiency
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, CNS demyelin... OMIM:611721
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Agyria, Lissencephaly, Elevated circulating creatine kinase concentration... OMIM:615249
Leukodystrophy, Childhood-Onset, Remitting
Abnormal cerebral white matter morphology, Leukodystrophy OMIM:619864
Frontonasal Dysplasia 1
Widow's peak, Clinodactyly, Camptodactyly, Cataract, Radial deviation of finger, Microphthalmia, ... OMIM:136760
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Abnormal hair morphology, Anophthalmia OMIM:248450
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Hyperintensity of cerebral white matter on MRI, Thin corpus callosum, Leukodystrophy, Delayed spe... OMIM:619708
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Baraitser-Winter Syndrome 2
Seizure, Microphthalmia, Highly arched eyebrow OMIM:614583
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Epiphyseal stippling, Hip dislocation, Scarring alopecia of scalp, Abnormality of... ORPHA:35173
Menkes Disease
Hypopigmentation of the skin, Intrauterine growth retardation, Short stature, Microcephaly OMIM:309400
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Peroxisome Biogenesis Disorder 8B
Elevated circulating phytanic acid concentration, Leukodystrophy, Abnormal cerebral white matter ... OMIM:614877
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulation test, Cereb... ORPHA:268261
Peroxisomal Acyl-Coa Oxidase Deficiency
Leukodystrophy, CNS demyelination, No social interaction, Pigmentary retinopathy OMIM:264470
Wiedemann-Rautenstrauch Syndrome
Synophrys, Hirsutism, Slender build, Sparse hair, Polymicrogyria, Increased serum estradiol, Type... ORPHA:3455
Moebius Syndrome
Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Decreased testicular ... OMIM:157900
Multiple Mitochondrial Dysfunctions Syndrome 3
Hyperglycinemia, Leukodystrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosu... OMIM:615330
Severe Oculo-Renal-Cerebellar Syndrome
Aplasia/Hypoplasia of the cerebellum, Glomerulopathy, Short stature, Choreoathetosis, Abnormality... ORPHA:2715
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Cataract, Microcephaly, CNS hypomyelination, ... OMIM:615356
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Angelman Syndrome
Hypopigmentation of the skin, Cerebral cortical atrophy, Progressive gait ataxia, Fair hair, Seco... OMIM:105830
Dubowitz Syndrome
Megalocornea, Sparse scalp hair, Sparse lateral eyebrow, Hypoplasia of the iris, Delayed speech a... OMIM:223370
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Metaphyseal cupping of proximal ph... OMIM:300863
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the corpus callosum, Hypophosphatemia, Iris coloboma, Ab... ORPHA:2611
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Optic disc hypoplasia, Elevated circulating creatine kinase concentration... OMIM:619955
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Failure to thrive, Cataract, Microphthalmia, Hypertrichosis, Po... OMIM:612379
Porphyria Variegata
Somatic sensory dysfunction, Hypopigmentation of the skin, Porphyrinuria, Neurogenic bladder, Inc... ORPHA:79473
Tyrosinemia, Type Ii
Hypertyrosinemia, Herpetiform corneal ulceration OMIM:276600
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Generalized hypopigmentation, Ocular albinism, Short statur... ORPHA:2720
Leukodystrophy, Hypomyelinating, 16
Delayed speech and language development, Leukodystrophy, Absent speech, Failure to thrive, Delaye... OMIM:617964
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Polymicrogyria, Elevated circulating creatine kinase concentration, Optic nerve hyp... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Temtamy Syndrome
Lens luxation, Thick corpus callosum, Ectopia lentis, Iris coloboma, Microphthalmia, Highly arche... OMIM:218340
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Unilateral cryptorchidism, Female infer... ORPHA:261529
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... OMIM:206920
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... ORPHA:137902
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Absent speech, Failure to thrive, Microcephaly, Dysplastic corpus callo... OMIM:620001
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Hyperornithinemia, Abnormal hair morphology, Subcapsular cataract ORPHA:414
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Anophthalmia, Abnormal cortical gyration, Mac... ORPHA:899
Abetalipoproteinemia
Hypothyroidism, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoconjunctivitis... ORPHA:14
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Cataract, Abnormal... ORPHA:573
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation of hair, Generalized hypopigmentation... ORPHA:352731
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macro... ORPHA:189427
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Seizure, Microphthalmia OMIM:602501
Fanconi Anemia, Complementation Group I
Hypothyroidism, Cafe-au-lait spot, Decreased body weight, Decreased response to growth hormone st... OMIM:609053
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Genu valgum, Flexion contracture of the 2nd toe, Radioulnar synostosis, Flexi... ORPHA:2712
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypertriglyceridemia, Steatorrhea ORPHA:71
Brittle Cornea Syndrome 1
Keratoglobus, Congenital hip dislocation, Abnormal cornea morphology, Decreased corneal thickness... OMIM:229200
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy, Agyria, Absent speech, Elevated circulating creatine kinase concentration, Buphth... ORPHA:370997
Hyperphosphatasia-Intellectual Disability Syndrome
Small nail, Cerebral hypomyelination, Supernumerary nipple, Shallow anterior chamber, Highly arch... ORPHA:247262
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Pelizaeus-Merzbacher Disease, Classic Form
Confluent hyperintensity of cerebral white matter on MRI, Cerebral hypomyelination, Delayed speec... ORPHA:280219
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination, Microcephaly, Hyperintensity of cerebral white matter on MRI OMIM:619322
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Abnormality of skin pigmentation, Supernumerary ribs, Supern... OMIM:308300
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Localized Epidermolysis Bullosa Simplex
Paresthesia, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Posterior lenticonus, Microphthalmia, Microcornea ORPHA:231736
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Postaxial h... ORPHA:3378
Galactosemia I
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... OMIM:230400
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Cataract, Absent speech OMIM:614932
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Delayed speech and language development, Steatorrhea, Failure to thrive, Hypergon... OMIM:212065
Frontofacionasal Dysplasia
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Microcornea, Iris coloboma, ... ORPHA:1791
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Perisylvian polymicrogyria, Occipital cortical atrophy, Short statu... ORPHA:98754
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Simplified gyral pattern, Microcornea, Astigmatism, Cataract, Corneal opacity, Microcephaly, Myop... OMIM:152950
Clouston Syndrome
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Hyperpigmen... OMIM:129500
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, CNS hypomyelination ORPHA:309155
Warburg Micro Syndrome 2
Developmental cataract, Microcornea, Absent speech, Cataract, Secondary microcephaly, Microcephal... OMIM:614225
Nance-Horan Syndrome
Cataract, Microphthalmia, Short metacarpal, Microcornea ORPHA:627
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, CNS demyelination, Basal ganglia calcification, C... OMIM:618193
Oculoskeletodental Syndrome
Developmental cataract, Abnormality of the frontal hairline, Focal white matter lesions, Hypercal... ORPHA:557003
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Precocious puberty, Anophthalmia, Long eyelashes, Microcornea, Cataract, Micr... OMIM:615877
Hengel-Maroofian-Schols Syndrome
Synophrys, Thin corpus callosum, Abnormal CNS myelination, Absent speech, Microcephaly, Cerebral ... OMIM:619641
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Delayed speech and language development, Perive... OMIM:616900
Leigh Syndrome With Leukodystrophy
Leukodystrophy, Hypertrichosis, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Pi... ORPHA:255241
Baraitser-Winter Syndrome 1
Lissencephaly, Failure to thrive, Iris coloboma, Microcephaly, Pachygyria, Low posterior hairline... OMIM:243310
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Perisylvian polymicrogyria, Occipital cortical atrophy, Short statu... ORPHA:98793
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Abnormal CNS myelination, Obesity ORPHA:521390
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
Leukodystrophy, Hypomyelinating, 3
Sudanophilic leukodystrophy, Leukodystrophy, Absent speech, Failure to thrive, Microcephaly, Corp... OMIM:260600
Hypomelanosis Of Ito
Cerebral atrophy, Macrocephaly, Microcephaly, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Secondary microcephaly, Optic disc hypoplasia, CNS hypomyelina... OMIM:619306
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Absent septum pellucidum,... OMIM:218670
Lissencephaly Syndrome, Norman-Roberts Type
Adducted thumb, Hypoplastic spleen, Rocker bottom foot ORPHA:89844
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Abnormal cerebral white matter morphology, CNS hypomyelination, Hypopl... OMIM:614501
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Perisylvian polymicrogyria, Occipital cortical atrophy, Short statu... ORPHA:177904
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Perisylvian polymicrogyria, Occipital cortical atrophy, Short statu... ORPHA:177901
Martsolf Syndrome 1
Short phalanx of finger, Short toe, Broad femoral neck, Avascular necrosis of the capital femoral... OMIM:212720
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Hypopigmentation of the skin, Short stature, Hyperphosphaturia, Growth delay,... OMIM:163200
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Hyperpigmentation of the skin, Spotty hyperpigmentation, Generalized hypopigmentation, Generalize... ORPHA:158681
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Sparse eyelashes, Short palm, Sparse hair, Alopecia, Congenital hip di... OMIM:268400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Aminoaciduria, Dysplastic corpus callosum, Microcephaly OMIM:604273
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Widow's peak, Clinodactyly of the 5th finger, Bilateral microphthalmos, Cataract,... ORPHA:2399
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Delayed myelination, Decreased response to growth hormone stimulation test, De... OMIM:241410
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Hyperintensity of cerebral white matter on MRI, Leukodystrophy, Delayed speech and language devel... OMIM:619224