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Gene: Nalcn MGI:2444306

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Gene Summary

Name:
sodium leak channel, non-selective
Synonyms:
Vgcnl1,  A530023G15Rik

Order Alleles

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
anophthalmia Nalcnem1(IMPC)Mbp HOM E15.5 0.00
syndactyly Nalcnem1(IMPC)Mbp HET E15.5 0.00
polydactyly Nalcnem1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Nalcnem1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Nalcnem1(IMPC)Mbp HET Early adult 0.00
microcephaly Nalcnem1(IMPC)Mbp HOM E15.5 0.00
spina bifida Nalcnem1(IMPC)Mbp HET E15.5 0.00
polydactyly Nalcnem1(IMPC)Mbp HET E15.5 0.00
microphthalmia Nalcnem1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Nalcnem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Nalcnem1(IMPC)Mbp HET Early adult 0.00
anophthalmia Nalcnem1(IMPC)Mbp HET E15.5 0.00
microcephaly Nalcnem1(IMPC)Mbp HET E15.5 0.00
hemorrhage Nalcnem1(IMPC)Mbp HOM E15.5 0.00
spina bifida Nalcnem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Nalcnem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Nalcnem1(IMPC)Mbp HET E15.5 0.00
increased neutrophil cell number Nalcnem1(IMPC)Mbp HET Early adult 9.73×10-09
increased red blood cell distribution width Nalcnem1(IMPC)Mbp HET Early adult 7.13×10-05
syndactyly Nalcnem1(IMPC)Mbp HOM E15.5 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.

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Nalcn 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 associated to Nalcn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Elbow flexion contracture, Hip contracture, Hypoplasia of the corpus callosum, Arachn... ORPHA:371364
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Micro... ORPHA:562528
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla... ORPHA:1147
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebral atrophy, Umbilical hernia, Elbow flexion contracture, Hip contracture, Talipes equinovar... OMIM:616266
Freeman-Sheldon Syndrome
Talipes equinovarus, Ulnar deviation of finger, Absent palmar crease, Camptodactyly of finger ORPHA:2053

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia OMIM:233270
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... OMIM:615938
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Spinal Muscular Atrophy With Impaired Intellectual Development
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... ORPHA:64754
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG OMIM:607745
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG OMIM:601764
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... OMIM:613885
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... OMIM:251255
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Mmep Syndrome
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:254210
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia ORPHA:291
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... OMIM:600384
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphtha... OMIM:616570
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... OMIM:164180
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... OMIM:102510
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... ORPHA:945
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... OMIM:211960
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Benign Familial Neonatal-Infantile Seizures
Apnea, Continuous spike and waves during slow sleep, EEG with focal spikes ORPHA:140927
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... ORPHA:139471
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Fatiguable weakness of proximal limb muscles, Motor conductio... ORPHA:2932
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... OMIM:610140
Humero-Radial Synostosis
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... ORPHA:3265
Severe Neonatal-Onset Encephalopathy With Microcephaly
Multifocal epileptiform discharges, EEG with focal slow activity, Apnea ORPHA:209370
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... ORPHA:3268
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Death in infancy OMIM:613869
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele OMIM:213010
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with secondary generalization ORPHA:1949
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Myasthenic Syndrome, Congenital, 16
Apnea, Fatigable weakness OMIM:614198
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy OMIM:610992
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... OMIM:603194
Joubert Syndrome 22
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... OMIM:615665
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... OMIM:611134
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Seckel Syndrome 2
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... OMIM:606744
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy OMIM:611722
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... OMIM:613155
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:617255
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... OMIM:602501
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr... OMIM:258900
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... ORPHA:166024
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger ORPHA:391646
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, EEG abnormality, Central hypoventilation OMIM:300673
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Hydrolethalus
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, P... ORPHA:2189
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Septooptic Dysplasia
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... OMIM:182230
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Bardet-Biedl Syndrome 22
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly OMIM:617119
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly, Spinal dysraphism ORPHA:1114
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Folinic Acid-Responsive Seizures
Optic atrophy, Respiratory distress, Apnea, Hypsarrhythmia, EEG with generalized slow activity, M... ORPHA:79097
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity OMIM:605726
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu... ORPHA:1327
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Apnea OMIM:617933
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Talipes equinovarus, Microcephal... OMIM:616171
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Apnea, Normal interictal EEG ORPHA:306
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Decreased distal sensory nerve action potential, Decreased m... OMIM:601098
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:611228
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials OMIM:608673
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... ORPHA:1553
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Apnea OMIM:617290
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:608323
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Apnea OMIM:618236
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Abnormal morphology of the radius ORPHA:3469
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... ORPHA:2117
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger OMIM:618725
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat... OMIM:604273
Temtamy Syndrome
Short toe, Aplasia/Hypoplasia of the corpus callosum, Brachydactyly, Macrocephaly, Microphthalmia... ORPHA:1777
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia ORPHA:324416
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, EEG with burst suppression, Hypsarrhythmia OMIM:301058
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... ORPHA:1120
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Pontocerebellar Hypoplasia Type 4
Central apnea ORPHA:166063
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Fatiguable weakness of proximal limb muscles, Abnormal peripheral action potential ampli... ORPHA:90117
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... OMIM:175700
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Ence... ORPHA:1908
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Congenital Myopathy 14
Apnea, Death in infancy OMIM:618414
Microphthalmia, Syndromic 8
Microcephaly, Split foot, Microphthalmia OMIM:601349
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Braddock-Carey Syndrome 2
Microcephaly, Clinodactyly, Microphthalmia OMIM:619981
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Death in infancy OMIM:616277
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Nanophthalmos
Microphthalmia ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, EEG abnormality ORPHA:71277
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Metatarsus ... ORPHA:899
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Cofs Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Microcephaly, Aplasia... ORPHA:1466
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand ORPHA:2440
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity OMIM:605253
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, EEG with burst suppression, Apnea, Death in infancy, Abnormal autonomic nervous sy... OMIM:614498
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
17Q12 Microduplication Syndrome
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Abnormalit... ORPHA:90103
Hypomelanosis Of Ito
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... OMIM:300337
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Trisomy 1Q
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Agenesis of cor... ORPHA:261344
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... OMIM:614814
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Nanophthalmos 4
Microphthalmia OMIM:615972
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... OMIM:300887
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Broad palm, Spina bifida, Macrocephaly OMIM:620439
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Myoclonus, Intractable, Neonatal
Optic disc pallor, Apnea OMIM:617235
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation OMIM:619483
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... OMIM:619091
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neonatal death OMIM:610127
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum ORPHA:411986
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity OMIM:162500
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Macrocephaly, Abnormal meta... ORPHA:3219
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... OMIM:600118
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud... ORPHA:457205
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Tethered cord OMIM:617244
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... OMIM:601707
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachnodactyly, Micro... OMIM:600325
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:280234
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... OMIM:251270
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Spina bifida, Rocker bott... OMIM:616038
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Apnea ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Apnea, Optic atrophy OMIM:618228
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:301310
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Joubert Syndrome 33
Apnea OMIM:617767
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Excessive wrinklin... ORPHA:487825
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity OMIM:615376
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... OMIM:603387
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Periventricular Nodular Heterotopia 1
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... OMIM:300049
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity OMIM:613287
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Kcnq2-Related Epileptic Encephalopathy
EEG with burst suppression, Apnea, Hypsarrhythmia ORPHA:439218
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Anophthalmia, Bilateral single transverse p... ORPHA:3378
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Developmental And Epileptic Encephalopathy 99
Multifocal epileptiform discharges, Central apnea OMIM:619606
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Joubert Syndrome 16
Encephalocele, Dandy-Walker malformation, Polydactyly OMIM:614465
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity OMIM:607706
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:610100
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... OMIM:619694
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Episodic tachypnea, Optic disc pallor, Apnea ORPHA:79264
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:613153
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity DECIPHER:29
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... ORPHA:3210
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Fatigable weakness, Hypoventilation, Facial palsy OMIM:617143
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Abnormal motor evoked potentials ORPHA:99939
Adams-Oliver Syndrome 2
Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar crease, Cereb... OMIM:614219
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity OMIM:618404
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Microcephaly, Deep palmar crease, Broad palm, ... OMIM:602342
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly ORPHA:77298
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Agenesis of corpus cal... ORPHA:93267
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Gaucher Disease, Atypical, Due To Saposin C Deficiency