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Gene: Pah MGI:97473

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Gene Summary

Name:
phenylalanine hydroxylase
Synonyms:
N/A

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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
decreased exploration in new environment Pahem1(IMPC)Tcp HET Early adult 6.07×10-06
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
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
small adrenal glands Pahem1(IMPC)Tcp HOM Early adult 0.00

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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.

Gross Pathology and Tissue Collection

Images

17 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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X-ray

XRay Images Skull Lateral Orientation

13 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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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

3 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
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Short stature, Microcephaly, Melanocytic... ORPHA:2435
Gemignani Syndrome
Impaired pain sensation, Delayed puberty, Ataxia, Hypopigmented skin patches, Short stature, Hypo... ORPHA:2074
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Hypermelanotic macule, Short stat... ORPHA:241
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair, Growth delay, Dandy-Walker malformation OMIM:257800
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Epilepsy, Familial Temporal Lobe, 1
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole, Focal sensory seizure... OMIM:600512
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lissencephaly 8
Cataract, Type II lissencephaly, Polymicrogyria, Cerebral hypomyelination, Microphthalmia, Elevat... OMIM:617255
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Gombo Syndrome
Delayed puberty, Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Neuroectodermal Melanolysosomal Disease
Subcortical cerebral atrophy, Ataxia, Premature graying of hair, Hypopigmentation of the skin, Hy... ORPHA:33445
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Gait disturbance, Hypopigmented skin patches ORPHA:2819
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Progressi... OMIM:607624
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
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
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Long eyelashes, Thin corpus callosum, Cerebral atrophy, CNS hypomyelination, Synophrys,... OMIM:619286
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Alg2-Cdg
Cataract, Cerebral hypomyelination, Iris coloboma, Lateral ventricle dilatation, Microcephaly, Hy... ORPHA:79326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL choles... OMIM:616834
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia OMIM:606574
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
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
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
CNS hypomyelination, Cerebral hypomyelination, Failure to thrive, Corpus callosum atrophy, Microc... ORPHA:369939
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebral atrophy, Hirsutism, Hypoplasia of the corpus callosum, Hyperintensi... ORPHA:527497
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract, Cerebral hypomyelination ORPHA:85163
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed puberty, Irregular hyperpigmentation, Generalized hypopigmentation, Short stature, Hypopl... ORPHA:1816
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months ... OMIM:604403
Lissencephaly, X-Linked, 1
Micropenis, Ataxia, Pachygyria, Agyria, Lissencephaly, Postnatal growth retardation, Agenesis of ... OMIM:300067
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
4H Leukodystrophy
Cataract, Delayed puberty, Hyperintensity of cerebral white matter on MRI, Cerebral hypomyelinati... ORPHA:289494
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Microcephaly ORPHA:2513
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, CNS hypomyelination, Leukodystrophy, Failure to thrive OMIM:616494
Autoimmune Polyendocrinopathy Type 1
Cataract, Adrenal hyperplasia, Hypopigmented skin patches, Hypoparathyroidism, Decreased circulat... ORPHA:3453
Hidrotic Ectodermal Dysplasia
Anonychia, Abnormal metacarpophalangeal joint morphology, Sparse eyebrow, Nail dystrophy, Brittle... ORPHA:189
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Ataxia, H... OMIM:256710
Warburg Micro Syndrome 1
Facial hypertrichosis, Cerebral atrophy, Perisylvian polymicrogyria, Microphthalmia, Failure to t... OMIM:600118
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination, Cerebral atrophy, Decreased circulating copper concentration, Developmental ... OMIM:614482
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Focal impaired awar... OMIM:616172
Leukodystrophy, Hypomyelinating, 10
CNS hypomyelination, Cerebral atrophy, Secondary microcephaly, Failure to thrive, Reduced cerebra... OMIM:616420
Leukoencephalopathy With Vanishing White Matter 1
Cessation of head growth, Cerebral hypomyelination, Primary gonadal insufficiency, CNS demyelinat... OMIM:603896
Hereditary Methemoglobinemia
Small for gestational age, Cerebral hypomyelination, Temporal cortical atrophy, Abnormality of th... ORPHA:621
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Fine hair, Fragile nails, Dysplastic corpus callosum, ... ORPHA:500166
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea, Hypogonadism ORPHA:2528
Woolly Hair
Cataract, Sparse body hair, Fine hair, Abnormal pupil morphology, Brittle hair, Abnormality of ha... ORPHA:170
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Cataract, Hirsutism ORPHA:85288
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination, Progressive microcephaly, Cerebral atrophy, Microcephaly, Reduced cerebral w... OMIM:613477
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
S-Adenosylhomocysteine Hydrolase Deficiency
CNS hypomyelination, Abnormal circulating homocysteine concentration, Delayed myelination, Hyperm... ORPHA:88618
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, CNS hypomyelination, Progressive microcephaly, Cerebral atrophy, Simpl... OMIM:614261
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination, Thin corpus callosum, Failure to thrive, Microcephaly, Delayed CNS myelinati... OMIM:616577
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
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Syndactyly, Microphthalmia, Brachydactyly, Clinodactyly, Peters anomaly, Ocular an... OMIM:610023
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Classic Phenylketonuria
Motor deterioration, Cerebral calcification, Memory impairment, Mental deterioration, Hypopigment... ORPHA:79254
Squalene Synthase Deficiency
Polymicrogyria, Decreased LDL cholesterol concentration, Failure to thrive in infancy, Optic nerv... OMIM:618156
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:616685
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination, Hypoplasia of the corpus callosum, Secondary microcephaly, Frontotemporal ce... OMIM:618559
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Developmental And Epileptic Encephalopathy 86
Small for gestational age, CNS hypomyelination, Microcephaly OMIM:618910
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Cessation of head growth, Iris hypopigmentation, Ataxia, Hypopigmentation of the skin, Hypopigmen... ORPHA:411515
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, CNS hypomyelination, Cerebral atrophy, Synophrys, Delayed CNS myelination, Hypoplasia o... OMIM:619260
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Potocki-Lupski Syndrome
Small for gestational age, Delayed myelination, Failure to thrive, Microcephaly, Hypothyroidism, ... OMIM:610883
Leukodystrophy, Hypomyelinating, 15
CNS hypomyelination, Cerebral atrophy, Failure to thrive, Microcephaly, Hypoplasia of the corpus ... OMIM:617951
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Short stature ORPHA:2786
Griscelli Syndrome Type 1
Iris hypopigmentation, Ataxia, Premature graying of hair, Cerebral calcification, White hair, Par... ORPHA:79476
Deafness, Dystonia, And Cerebral Hypomyelination
Microcephaly, Cerebral hypomyelination, Cerebral atrophy, Failure to thrive OMIM:300475
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Cerebral white matter atrophy, Developmental cataract, Leukodystrophy, Onion... OMIM:610532
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613863
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Primary microcephaly, Overfriendliness, Dysplastic corpus callosum OMIM:618010
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Thin corpus callosum, Methylmalonic acidemia, Delayed CNS myelination, Retinal pigment ... OMIM:614105
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination, Iris coloboma, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus call... OMIM:618012
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair, CNS hypomyelination, Abnormality of the pituitary gland ORPHA:643
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive, Aminoaciduria, Abnormal fingernail morphology ORPHA:2278
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Microphthalmia OMIM:278780
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Iris coloboma, Microcoria OMIM:616428
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spasticity, Childhood-Onset, With Hyperglycinemia
Hypoplasia of the corpus callosum, Hyperglycinemia, Leukodystrophy OMIM:616859
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric... ORPHA:391417
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed puberty, CNS hypomyelination, Hypoplasia of the corpus callosum, Cerebral cortical atroph... OMIM:607694
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination, Progressive microcephaly, Diabetes mellitus, Lumbar hypertrichosis, Low ante... OMIM:618622
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination, Progressive microcephaly, Cerebral atrophy, Simplified gyral pattern, Microc... OMIM:615760
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Corneal opacity, Opacification of the corneal stroma, C... OMIM:252650
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Primary microcephaly, Cerebral hypomyelination, Hypogonadism, Hypogly... ORPHA:79351
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect, Hypoplasia... OMIM:619165
Neurodevelopmental Disorder With Language Delay And Seizures
CNS hypomyelination, Thin corpus callosum, Diffuse cerebral atrophy, Hypothyroidism, Hypomagnesemia OMIM:619908
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Segmental peripheral demyelination, Decre... OMIM:214400
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Reticulated skin pigmentation, Hypomelanotic macule, Mottled pigmentatio... ORPHA:79397
Kaya-Barakat-Masson Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Cerebral atrophy OMIM:619125
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Progressive microcephaly, Failure to thrive, Broad eyebrow, Severe demyelina... ORPHA:481152
Woolly Hair Nevus
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... ORPHA:79414
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... OMIM:193510
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed puberty, CNS hypomyelination, Abnormal basal ganglia morphology, Hypoplasia of the corpus... ORPHA:447896
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Hypergonadotropic hypogonadism ORPHA:88637
Phenylketonuria
Blue irides, Increased level of hippuric acid in urine, Generalized hypopigmentation, Cerebral ca... OMIM:261600
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Leukodystrophy, Hypomyelinating, 22
Astigmatism, CNS hypomyelination OMIM:619328
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Dysplastic corpus callosum, Sparse eyebrow, Developmental cataract, Hypocholesterol... OMIM:618810
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Lo... ORPHA:1617
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Thin corpus callosum OMIM:619688
Al-Raqad Syndrome
Gait ataxia, Inability to walk, Microcephaly, Hypopigmentation of the skin OMIM:616459
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613060
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Delayed myelination, Elevated circulating creatine kinase concentration, ... OMIM:617613
Glutamine Deficiency, Congenital
Hyperammonemia, CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia of the corpus callo... OMIM:610015
Adams-Oliver Syndrome 4
Toenail dysplasia, Hypoplastic toenails, Microphthalmia, Aplasia of the middle phalanx of the 4th... OMIM:615297
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:608096
Phakomatosis Pigmentovascularis
Paresthesia, Hypopigmented skin patches, Cognitive impairment, Cerebral calcification, Generalize... ORPHA:2875
Peroxisome Biogenesis Disorder 11A (Zellweger)
Lissencephaly, Polymicrogyria, CNS hypomyelination, Failure to thrive OMIM:614883
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Microcephaly, Secondary microcephaly, Diffuse white matter abnormalities OMIM:616763
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Cerebral atrophy, Partial agenesis of the corpus callosum, Simplified gyral pattern, Mi... OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Type II lissencephaly, Simplified gyral pattern, Low anterior hairline, Microphthalmia,... OMIM:613153
Microphthalmia, Isolated 4
Absent testis, Microphthalmia, Postaxial polydactyly OMIM:613094
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Combined Oxidative Phosphorylation Deficiency 53
CNS hypomyelination, Secondary microcephaly, Dysplastic corpus callosum, Failure to thrive, Eleva... OMIM:619423
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:89838
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp... ORPHA:177910
Multiple Mitochondrial Dysfunctions Syndrome 4
Abnormal periventricular white matter morphology, Leukodystrophy OMIM:616370
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Hypermelanotic macule, Spotty hyperpigmentation, M... ORPHA:79399
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Microphthalmia OMIM:274270
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Freckles in sun-exposed areas, Albinism, Hypopigmentation o... OMIM:203200
Ddost-Cdg
CNS hypomyelination, Failure to thrive, Primary hypothyroidism ORPHA:300536
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp... OMIM:145250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Seizure, Microphthalmia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Pelizaeus-Merzbacher Disease
CNS hypomyelination, Thin corpus callosum, Sudanophilic leukodystrophy, Abnormal CNS myelination,... OMIM:312080
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri... OMIM:604229
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Decreased plasma free carnitine, Hyperlysinuria, Failure to thrive, Microcephal... OMIM:616034
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Thin corpus callosum, Cerebral hypomyelination, Hypoplasia of the corpus cal... OMIM:614381
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination, Elevated circulating creatine kinase concentration, Microcephaly, Hypoplasia... OMIM:616239
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Oculocerebrocutaneous Syndrome
Seizure, Anophthalmia, Alopecia, Microphthalmia OMIM:164180
Maternal Uniparental Disomy Of Chromosome X
Short stature, Hypopigmentation of the skin, Azoospermia, Microcephaly, Agenesis of corpus callosum ORPHA:261519
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral cortical... OMIM:618437
Cofs Syndrome
Cataract, Hypogonadism, Microphthalmia, Abnormality of retinal pigmentation, Cerebral calcificati... ORPHA:1466
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Dyspl... OMIM:604213
Developmental And Epileptic Encephalopathy 1
Infantile spasms, Focal-onset seizure, Focal motor seizure, Tonic seizure, Generalized myoclonic ... OMIM:308350
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, CNS hypomyelination, Leukoencephalopathy OMIM:615281
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Thin corpus callosum, Microcephaly OMIM:620023
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia With Brain And Digit Anomalies
Cataract, Postaxial foot polydactyly, Cryptorchidism, Nail dysplasia, Iris coloboma, Proximal pla... ORPHA:139471
Mmep Syndrome
Triphalangeal thumb, Cryptorchidism, Microphthalmia, Split foot ORPHA:3434
Angelman Syndrome Due To A Point Mutation
Mild microcephaly, Cessation of head growth, Iris hypopigmentation, Secondary microcephaly, Ataxi... ORPHA:411511
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock, M... OMIM:601706
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
CNS hypomyelination, Astigmatism, Pachygyria, Microcephaly, Cerebral cortical atrophy, Leukodystr... OMIM:619576
Biemond Syndrome Type 2
Delayed puberty, Hypogonadism, Preaxial polydactyly, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:141333
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Microphthalmia, Irregular menstruation, Female infertility, High... OMIM:110100
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Brittle hair, Keratoconjunctivitis sicca, Concave nail, Mic... OMIM:234050
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, Hypoplasia of the corpus callosum, CNS hypomyelination, Cachexia OMIM:618186
Pyruvate Carboxylase Deficiency
Hyperintensity of cerebral white matter on MRI, Hyperglutamatemia, Hyperammonemia, CNS hypomyelin... ORPHA:3008
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination, Microcephaly OMIM:618557
Chromosome 8Q21.11 Deletion Syndrome
Cataract, CNS hypomyelination, Pigmentary retinopathy, Microphthalmia, Sclerocornea, Hypoplasia o... OMIM:614230
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Failure to thrive OMIM:618276
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy OMIM:617560
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Spastic Paraplegia 44, Autosomal Recessive
Hypoplasia of the corpus callosum, CNS hypomyelination OMIM:613206
Waardenburg Syndrome, Type 4A
Blue irides, Ataxia, Hypopigmented skin patches, Premature graying of hair, White eyelashes, Whit... OMIM:277580
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Iris coloboma, Hypoplastic acetabulae, Hypoplastic ... OMIM:169550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Long eyelashes, Microphthalmia, Hypogonadotropic hypogonadism,... ORPHA:48431
Orofaciodigital Syndrome Xvii
CNS hypomyelination, Decreased body weight OMIM:617926
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Ataxia, Hypopigmented skin patches, Hypopigmentation of hair, Hetero... ORPHA:2885
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Leukodystrophy, Leukoencephalopathy OMIM:614561
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hyperinsulinemia, Hypopigmentation of the skin, Red hair, Growth delay ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hyperinsulinemia, Hypopigmentation of the skin, Red hair, Growth delay ORPHA:71526
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... OMIM:615771
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Posterior embryotoxon ORPHA:1473
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Erythrokeratodermia Variabilis
Cataract, Irregular hyperpigmentation, Hypermelanotic macule, Diabetes mellitus, Abnormality of t... ORPHA:317
Adenylosuccinase Deficiency
Cerebral hypomyelination, CNS hypomyelination, Cerebral atrophy, Inappropriate laughter, Microcep... OMIM:103050
Waardenburg Syndrome, Type 2E
Blue irides, Iris hypopigmentation, Cerebral hypomyelination, Hypopigmented skin patches, Prematu... OMIM:611584
Cerebrooculofacioskeletal Syndrome 1
Cataract, Small for gestational age, Diffuse cerebral atrophy, Basal ganglia calcification, CNS d... OMIM:214150
Folinic Acid-Responsive Seizures
Delayed myelination, Frontotemporal cerebral atrophy, Cerebral hypomyelination ORPHA:79097
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Paragangliomas 6
Paraganglioma, Elevated circulating catecholamine level OMIM:618464
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination, Simplified gyral pattern, Pachygyria, Microcephaly, Hypoplasia of the corpus... OMIM:615966
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Frontal balding, Epil... ORPHA:1942
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination, Secondary microcephaly, Synophrys, Diffuse cerebral atrophy, Elevated circul... OMIM:617193
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Cessation of head growth, Iris hypopigmentation, Secondary microcephaly, Hypopigmentation of the ... ORPHA:98795
Cat-Eye Syndrome
Abnormal rib morphology, Iris coloboma, Hip dysplasia, Microphthalmia ORPHA:195
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot OMIM:616570
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Hypointensity of cerebral white matter on MRI, Leukodystrophy OMIM:619196
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Cerebral hypomyelination, Cerebral atrophy, Leukodystrophy OMIM:608804
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Microphthalmia OMIM:300915
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation ORPHA:69125
Pierpont Syndrome
Short finger, Cryptorchidism, Microphthalmia, High anterior hairline, Short toe, Prominent finger... ORPHA:487825
Microphthalmia-Brain Atrophy Syndrome
Focal hyperkinetic seizure, Bilateral microphthalmos, Generalized-onset seizure, Multifocal seizu... ORPHA:77299
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypoplasia of the corpus callosum, Cerebral atrophy, CNS hypomyelination, Decreased response to g... OMIM:618922
Congenital Varicella Syndrome
Cataract, Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Fine hair, Keratoconjunctivitis sicca, Corneal dystrophy, Abnormal fingernail morpholog... ORPHA:1806
Pierpont Syndrome
Short finger, Cryptorchidism, Microphthalmia, High anterior hairline, Short toe, Prominent finger... OMIM:602342
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Failure to thrive in infancy, Microphthalmia, Delayed CNS myelination, Hypoalbuminemia OMIM:618805
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Down-sloping shoulders, Camptodactyly, Astigmatism, Microphthalmia, Sparse lateral eyebrow OMIM:619694
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mild microcephaly, Cessation of head growth, Iris hypopigmentation, Secondary microcephaly, Ataxi... ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Microphthalmia, Elevated circulating creatine kinase concentration, Mic... OMIM:613155
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Primary microcephaly, Cerebral hypomyelination, Secondary microcephaly, Frontal hirsutism, Genera... OMIM:612949
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Intrauterine growth retardation, Microcephaly ORPHA:261304
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Slc35A2-Cdg
Abnormal renal morphology, Inability to walk, Cerebral atrophy, Transient nephrotic syndrome, Int... ORPHA:356961
Methionine Malabsorption Syndrome
Blue irides, Seizure, White hair OMIM:250900
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria, Irregular hyperpigmentation, Ataxia, Hypopigm... ORPHA:2116
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Intrauterine growth retardation, Short stature, C... OMIM:618541
17Q12 Microduplication Syndrome
Synophrys, Seizure, Microphthalmia ORPHA:261272
Galactokinase Deficiency
Cataract, Small for gestational age, Hypergalactosemia, Increased level of galactitol in plasma, ... ORPHA:79237
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Abnormal metaphysis morphology, Proximal placement of thumb, Abnormal epiphysis morphol... ORPHA:93267
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Microcephaly, Leukodystrophy OMIM:612438
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Microphthalmia, Split foot OMIM:601349
Piebaldism
Ataxia, Piebaldism, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Microc... ORPHA:2884
Developmental And Epileptic Encephalopathy 29
Cerebral atrophy, CNS hypomyelination, Microcephaly, Failure to thrive OMIM:616339
Rodrigues Blindness
Fine hair, Microphthalmia, Sclerocornea, Sparse hair, Microcornea OMIM:268320
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral hypomyelination, Cerebral at... OMIM:612164
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Cerebral atrophy, Nephrotic syndrome, Fair hair OMIM:269920
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Delayed myelination, Pachygyria, Hypoplasia of the corpus callosum, Cerebral... OMIM:614922
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
CNS hypomyelination, Thin corpus callosum, Paroxysmal bursts of laughter, Microcephaly, Delayed C... OMIM:619580
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Cryptorchidism, Diabetes mellitus, Short metatarsal, Advanced ossification of carpal... OMIM:614613
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Bowing of the legs, Short phalanx of finger, Brachydactyly, Coxa vara, ... ORPHA:85167
Microphthalmia, Syndromic 16
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Xeroderma Pigmentosum Variant
Hyperpigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentation of the skin ORPHA:90342
Hawkinsinuria
Sparse hair, Hypertyrosinemia, Microcephaly, Failure to thrive OMIM:140350
Microphthalmia, Isolated 5
Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sacral hypertrichosis, Primary microcephaly, Cerebral hypomyelination, Broad eyebrow, Highly arch... ORPHA:457351
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral hypomyelination, Diffuse cerebral atrophy, Microcephaly, Hypoplasia of the corpus callos... ORPHA:438114
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination, Abnormal corpus callosum morphology, Hyperintensity of cerebral white matter... ORPHA:280229
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Vogt-Koyanagi-Harada Disease
Vitiligo, Hypopigmented skin patches, Cognitive impairment, Premature graying of hair, Short stat... ORPHA:3437
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Alopecia, Primary h... OMIM:615830
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Linear Skin Defects With Multiple Congenital Anomalies 2
Delayed myelination, Microphthalmia, Highly arched eyebrow, Microcephaly, Nail dystrophy, Hypopla... OMIM:300887
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Microphthalmia, Microcephaly, Sparse hair, Developmental cat... OMIM:610756
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Sandestig-Stefanova Syndrome
Small for gestational age, Primary microcephaly, Microphthalmia, Highly arched eyebrow, Sparse me... OMIM:618804
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Curry-Jones Syndrome
Iris coloboma, Hypopigmented skin patches, Finger syndactyly, Microphthalmia, Toe syndactyly, Bro... ORPHA:1553
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Abnormal localization of kidney, Short stature, Hypopigmented skin patches ORPHA:1825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Type II lissencephaly, Polymicrogyria, Microphthalmia, Elevated circulating creatine ki... OMIM:615181
Bartsocas-Papas Syndrome 2
Axillary pterygium, Microphthalmia, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Cor... OMIM:619339
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Microphthalmia, Neonatal death OMIM:615524
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Cryptorchidism, Microphthalmia, Hypogonadism ORPHA:363741
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly OMIM:602361
Alg3-Cdg
Subcortical cerebral atrophy, Hypoplasia of the pons, Hypopigmentation of the skin, Abnormal cere... ORPHA:79321
Congenital Toxoplasmosis
Seizure, Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Microcephaly 10, Primary, Autosomal Recessive
Cataract, Small for gestational age, Primary microcephaly, Cerebral atrophy, Simplified gyral pat... OMIM:615095
Vici Syndrome
Renal tubular acidosis, Hypoplasia of the pons, Ureteral atresia, Short stature, Abnormality of r... ORPHA:1493
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Congenital Rubella Syndrome
Cataract, Abnormal metaphysis morphology, Microphthalmia, Abnormality of retinal pigmentation, Co... ORPHA:290
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hyperpigmentation of the skin, Severe short stature, Hypopigmented skin patches ORPHA:2251
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal metacarpophalangeal joint morphology, Primary amenorrhea, Metatarsal sy... ORPHA:95699
Alg12-Cdg
Cavum septum pellucidum, Progressive microcephaly, Low posterior hairline, Delayed myelination, S... ORPHA:79324
Pontocerebellar Hypoplasia, Type 7
Progressive microcephaly, Ataxia, Cerebral atrophy, Micropenis, Hypoplasia of the pons, Hypopigme... OMIM:614969
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigm... ORPHA:79435
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Short stature, Punctate periventricular T2 hyperintense f... ORPHA:309246
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Pigmentary retinopathy, Diabetes insipidus, Abetalipopro... ORPHA:96180
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Microcephaly, Hirsutism, Hypoplasia of the corpus callosum, Leukodystrophy OMIM:618006
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Iris coloboma, Alopecia, Optic nerve hypoplasia, Neona... ORPHA:85284
Temtamy Syndrome
Iris coloboma, Genu varum, Microphthalmia, Brachydactyly, Short toe, Clinodactyly of the 5th finger ORPHA:1777
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Premature graying of hair, Partial albinism, Microcephal... OMIM:148820
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Leukodystrophy, Hypomyelinating, 24
Cataract, Thin corpus callosum, Cerebral atrophy, Microcephaly, Hypothyroidism, Leukodystrophy OMIM:619851
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Isosexual precocious puberty, Abnormal femoral neck/head morphology, Microp... ORPHA:2788
Pelizaeus-Merzbacher Disease, Connatal Form
Macrogyria, Cerebral hypomyelination, Abnormal myelination, Failure to thrive, Confluent hyperint... ORPHA:280210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Microphthalmia, Neonatal death OMIM:613730
Kaufman Oculocerebrofacial Syndrome
Astigmatism, Failure to thrive, Sparse eyebrow, Microcephaly, Sparse hair, Hypocholesterolemia, H... OMIM:244450
Trichothiodystrophy 1, Photosensitive
Cataract, Trichoschisis, Freckling, Small for gestational age, Tiger tail banding, Trichorrhexis ... OMIM:601675
Galloway-Mowat Syndrome 1
Proteinuria, Cerebral atrophy, Ataxia, Secondary microcephaly, Diffuse mesangial sclerosis, Renal... OMIM:251300
Angelman Syndrome
Blue irides, Secondary microcephaly, Ataxia, Progressive gait ataxia, Hypopigmentation of the ski... OMIM:105830
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, CNS hypomyelination, Cachexia ORPHA:300605
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Primary microcephaly, Cerebral hypomyelination, Secondary microcephaly, Elevated circulating crea... ORPHA:496641
Lissencephaly Due To Tuba1A Mutation
Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ... ORPHA:171680
Cystinosis, Nephropathic
Delayed puberty, Pigmentary retinopathy, Progressive neurologic deterioration, Male infertility, ... OMIM:219800
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Sp... ORPHA:189439
Trichothiodystrophy 3, Photosensitive
Cataract, Tiger tail banding, Trichorrhexis nodosa, Brittle hair, Microphthalmia, Failure to thri... OMIM:616395
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Secondary microcephaly, Delayed myelination, Microcephaly, Hypoplasia o... OMIM:616683
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Type II lissencephaly, Progressive microcephaly, Abnormally large globe, Microphthalmia... OMIM:615249
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Short stature, Hy... ORPHA:999
Oculocutaneous Albinism
Hypoplasia of the fovea, Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, Whit... ORPHA:55
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination, Progressive microcephaly OMIM:618863
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Hypothyroidism OMIM:617577
Leukodystrophy, Childhood-Onset, Remitting
Abnormal cerebral white matter morphology, Leukodystrophy OMIM:619864
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Frontal balding, Increased... ORPHA:786
Frontonasal Dysplasia 1
Cataract, Camptodactyly, Widow's peak, Microphthalmia, Postaxial hand polydactyly, Radial deviati... OMIM:136760
Combined Saposin Deficiency
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, CNS demyelin... OMIM:611721
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, CNS demyelination, No social interaction, Leukodystrophy OMIM:264470
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination, Cerebral calcification, Microcephaly, Focal white matter lesions, Leuko... OMIM:612951
Moebius Syndrome
Camptodactyly, Decreased testicular size, Abnormality of the nail, Syndactyly, Lower limb undergr... OMIM:157900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, CNS hypomyelination, Cerebral atrophy, Elevated circulating creatine kinase concentrati... OMIM:615356
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Seizure, Microphthalmia OMIM:614583
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Neonatal epiphyseal stippling, Hip dislocation, Patchy alopecia, Abnormality of the nai... ORPHA:35173
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:614072
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome OMIM:103900
Menkes Disease
Hypopigmentation of the skin, Microcephaly, Intrauterine growth retardation, Short stature OMIM:309400
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Adams-Oliver Syndrome 2
Polymicrogyria, Cerebral atrophy, Low anterior hairline, Alopecia, Microphthalmia, Small nail, La... OMIM:614219
Warburg Micro Syndrome 3
Cataract, Polymicrogyria, Secondary microcephaly, Low anterior hairline, Microphthalmia, Shallow ... OMIM:614222
Porphyria Variegata
Somatic sensory dysfunction, Chronic kidney disease, Neurogenic bladder, Increased urinary porpho... ORPHA:79473
Wiedemann-Rautenstrauch Syndrome
Slender build, CNS hypomyelination, Optic disc hypoplasia, Pigmentary retinopathy, Hirsutism, Spa... ORPHA:3455
Peroxisome Biogenesis Disorder 8B
Cataract, Elevated circulating phytanic acid concentration, Failure to thrive, Peripheral demyeli... OMIM:614877
Dworschak-Punetha Neurodevelopmental Syndrome
Colpocephaly, Optic disc hypoplasia, Elevated circulating creatine kinase concentration, Dysplast... OMIM:619955
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Microphthalmia, Optic nerve hypoplasia, Dysplastic corpus callosum, Microcephaly,... OMIM:614833
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:404
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Hypopigmented skin patches, Renal insufficiency, Short stature, Abno... ORPHA:2715
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Multiple Mitochondrial Dysfunctions Syndrome 3
Polymicrogyria, Cerebral atrophy, Microcephaly, Beta-aminoisobutyric aciduria, Hypoplasia of the ... OMIM:615330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Cryptorc... ORPHA:90791
Linear Verrucous Nevus Syndrome
Cataract, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the fovea, Abnormal cornea morph... ORPHA:2611
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Polymicrogyria, Microphthalmia, Failure to thrive, Hypertrichosis, Abnormality of skin ... OMIM:612379
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping, Hypoplasia of the calcaneus, Thin ribs, Microphthalmia, Metaphyseal cupping ... OMIM:300863
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... ORPHA:897
Tyrosinemia, Type Ii
Hypertyrosinemia, Herpetiform corneal ulceration OMIM:276600
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Megalocornea... ORPHA:370959
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Increased circulating very long-chain fatty acid concentration... OMIM:617916
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Ataxia, Generalized hypopigmentation, Short stature, White hair, Ocular al... ORPHA:2720
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Corneal opacity, Aplasi... ORPHA:137902
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Ring Chromosome Y Syndrome
Cryptorchidism, Female infertility, Azoospermia, Streak ovary, Male infertility, Abnormal spermat... ORPHA:261529
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia, Highly arched eyebrow, Thick corpus... OMIM:218340
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Iridodonesis, Decreased corneal th... OMIM:309300
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, Hip dislocation, Abnormal eyelash morphology, Meta... OMIM:206920
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Hyperornithinemia, Aminoaciduria, Abnormal hair morphology ORPHA:414
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity OMIM:620195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Polymicrogyria, Microphthalmia, Elevated circulating creatine kinase concentration, Bup... OMIM:616538
Hermansky-Pudlak Syndrome 1
Freckling, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the ... OMIM:203300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Generalized hypopigmentation, Microphthalmia, Iris transillumination defect, Decreased ... OMIM:617306
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cataract, Small for gestational age, CNS hypomyelination, Iris coloboma, Astigmatism, Failure to ... ORPHA:268261
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Iris hypopigmentation, Generalized hypopigmentation, Genera... ORPHA:352731
Abetalipoproteinemia
Corneal ulceration, Steatorrhea, Decreased LDL cholesterol concentration, Keratoconjunctivitis si... ORPHA:14
Walker-Warburg Syndrome
Cataract, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Iris coloboma, Absent septum pe... ORPHA:899
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Seizure, Microphthalmia OMIM:602501
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... ORPHA:189427
Monilethrix
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, A... ORPHA:573
Brittle Cornea Syndrome 1
Congenital hip dislocation, Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair, Abn... OMIM:229200
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Dpagt1-Cdg
CNS hypomyelination, Astigmatism, Failure to thrive, Microcephaly, Hypertrichosis, Hypoplasia of ... ORPHA:86309
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Iris coloboma, Short thumb, Microphthalmia, Flexion contracture of the ... ORPHA:2712
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Astigmatism, Absent septum pellucidum, Decreased respo... OMIM:609053
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination, Supernumerary nipple, Small nail, Highly arched eyebrow, Shallow anteri... ORPHA:247262
Dubowitz Syndrome
Iris coloboma, Megalocornea, Microphthalmia, Sparse lateral eyebrow, Hypoplasia of the iris, Micr... OMIM:223370
Marbach-Rustad Progeroid Syndrome
Hyperintensity of cerebral white matter on MRI, CNS hypomyelination, Microcephaly OMIM:619322
Incontinentia Pigmenti
Cataract, Hypoplasia of the fovea, Nail pits, Nail dysplasia, Ridged nail, Breast hypoplasia, Sup... OMIM:308300
Localized Epidermolysis Bullosa Simplex
Paresthesia, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Long eyelashes, 3-4 finger syndactyly, Microphthalmia, 2-3 toe syndac... OMIM:615877
Trisomy 13
Cataract, Cryptorchidism, Iris coloboma, Abnormal eyelash morphology, Ectrodactyly, Microphthalmi... ORPHA:3378
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Iris coloboma, Posterior lenticonus ORPHA:231736
Galactosemia I
Cataract, Hypergalactosemia, Increased level of galactitol in plasma, Increased level of galacton... OMIM:230400
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Polymicrogyria, CNS hypomyelination, Thin corpus callosum, Hyperintensity of cerebral white matte... OMIM:619708
Frontofacionasal Dysplasia
Brushfield spots, Cataract, Iris coloboma, Limbal dermoid, Microphthalmia, Microcornea, Hypoplasi... ORPHA:1791
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Astigmatism, Simplified gyral pattern, Microphthalmia, Corneal opacity, Microcephaly, M... OMIM:152950
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Impaired temperature sensation, Decreased circulating gonadotropin concentration... ORPHA:98754
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Dysplastic corpus callosum, Hypocalcemia, Focal white matter... ORPHA:557003
Sandhoff Disease, Infantile Form
CNS hypomyelination, Cerebral cortical atrophy ORPHA:309155
Clouston Syndrome
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Alopecia, S... OMIM:129500
Warburg Micro Syndrome 4
Secondary microcephaly, Low anterior hairline, Perisylvian polymicrogyria, Microphthalmia, Hirsut... OMIM:615663
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of cor... ORPHA:250972
Nance-Horan Syndrome
Cataract, Short metacarpal, Microcornea, Microphthalmia ORPHA:627
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination, Hypoplasia of the corpus callosum, Microcephaly, Failure to thrive ORPHA:477673
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Basal ganglia calcification, CNS demyelination, Leukoencephalopathy, Hypoplasia of the corpus cal... OMIM:618193
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Impaired temperature sensation, Decreased circulating gonadotropin concentration... ORPHA:98793
Hypomelanosis Of Ito
Macrocephaly, Macular hypopigmented whorls, streaks, and patches, Microcephaly, Cerebral atrophy OMIM:300337
Baraitser-Winter Syndrome 1
Iris coloboma, Low posterior hairline, Microphthalmia, Failure to thrive, Highly arched eyebrow, ... OMIM:243310
Craniotelencephalic Dysplasia
Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissencephaly, Arrhinencephaly,... OMIM:218670
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:609734
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Impaired temperature sensation, Decreased circulating gonadotropin concentration... ORPHA:177904
Martsolf Syndrome 1
Cataract, Osteopathia striata, Slender ulna, Cryptorchidism, Finger joint hypermobility, Abnormal... OMIM:212720
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Lissencephaly Syndrome, Norman-Roberts Type
Adducted thumb, Hypoplastic spleen, Rocker bottom foot ORPHA:89844
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Pigmentary retinopathy, Failure to thrive, Hypertrich... ORPHA:255241
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Impaired temperature sensation, Decreased circulating gonadotropin concentration... ORPHA:177901
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Secondary microcephaly, Hypoplasia of the corpus callosum, CNS hypomyelination, Optic disc hypopl... OMIM:619306
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Cerebral hypomyelination, Thick eyebrow, Lateral ventricle dilatation, Micro... OMIM:618367
Angelman Syndrome
Iris hypopigmentation, Inability to walk, Ataxia, Delayed menarche, Hypopigmentation of the skin,... ORPHA:72
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Hypoplasia of the corpus callosum, Obesity ORPHA:521390
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination, Small for gestational age, Hypoplasia of the corpus callosum, Abnormal cereb... OMIM:614501
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Fifth finger distal phalanx clinodactyly, Broad long bones... OMIM:257850
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Decreased ci... OMIM:219080
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Aminoaciduria, Failure to thrive OMIM:604273
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Horseshoe kidney, Short stature, Hypopigmentation of the skin, Growth delay, ... OMIM:163200
Rothmund-Thomson Syndrome, Type 2
Short thumb, Absent eyelashes, Sparse eyebrow, Nail dystrophy, Sparse hair, Annular pancreas, Spa... OMIM:268400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Hyperpigmentation of the skin, Spotty hyperpigmentation, Generalized reticulate brown pigmentatio... ORPHA:158681
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Astigmatism, CNS demyelination, Microphthalmia, Broad eyebrow, Hypoplasia of the c... ORPHA:494344
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Abnormal eyelash morphology, Bilateral microphthalmos, Widow's peak, Microphthalmia, Co... ORPHA:2399
Fanconi Anemia, Complementation Group S
Long eyelashes, Proximal placement of thumb, Low anterior hairline, Microphthalmia, Ovarian carci... OMIM:617883
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Decrea... OMIM:241410
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hypergonadotropic hypogonadism, Failure to thrive, Microcephaly, Hypothyroidism, Hyp... OMIM:212065
Albinism, Oculocutaneous, Type Ia
Blue irides, Hypoplasia of the fovea, Astigmatism, Albinism, White hair, Hypopigmentation of hair... OMIM:203100
Tetraamelia-Multiple Malformations Syndrome
Cataract, Cryptorchidism, Iris coloboma, Aplasia/Hypoplasia involving the pelvis, Missing ribs, S... ORPHA:3301
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities