X-linked recessive
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=29) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Rett syndrome |
• Autism, dementia, ataxia, and loss of purposeful hand use • Classic Rett syndrome • Rett's disorder |
Neurodevelopmental disorders |
MECP2 methyl-CpG binding protein 2 FOXG1 forkhead box G1 CDKL5 cyclin dependent kinase like 5 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 RHOBTB2 Rho related BTB domain containing 2 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Oto-Palato-Digital syndrome |
• Otopalatodigital syndrome type 1 • OPD syndrome 1 |
Bone disorders |
FLNA filamin A |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Fragile X syndrome | Neurodevelopmental disorders |
FMR1 fragile X messenger ribonucleoprotein 1 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Child syndrome |
• Congenital hemidysplasia with ichthyosiform nevus and limbs defects • CHILD nevus |
Skin disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Focal dermal hypoplasia |
• Goltz syndrome • Goltz Gorlin syndrome |
Skin disorders |
PORCN porcupine O-acyltransferase |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Pyruvate dehydrogenase E1-alpha deficiency |
• Pyruvate decarboxylase deficiency • PDHAD • Ataxia with lactic acidosis I • PDHAD |
Metabolic disorders |
PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 PDHX pyruvate dehydrogenase complex component X |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Atrophia bulborum hereditaria |
• Norrie disease • Episkopi blindness • Fetal iritis syndrome • Norrie syndrom |
Eye disorders / Ear disorders |
NDP norrin cystine knot growth factor NDP TSPAN12 tetraspanin 12 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Nance-Horan syndrome |
• Cataract dental syndrome • Mesiodens cataract syndrome • Cataract X-linked with Hutchinsonian teeth |
Eye disorders |
NHS NHS actin remodeling regulator |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Orofaciodigital syndrome I |
• OFD syndrome 1 • Oral-facial-digital syndrome type 1 • Orofaciodigital syndrome 1 • Papillon-Léage-Psaume syndrome • OFDS 1 |
Neurodevelopmental disorders |
OFD1 OFD1 centriole and centriolar satellite protein |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Hyper-IgM syndrome type 1 |
• Hyper IgM immunodeficiency, X-linked • hyper-IgM syndrome due to CD40 ligand deficiency • Hyper-IgM Immunodeficiency Syndrome, Type 1 • Immunodeficiency with hyper IgM type 1 • Immunodeficiency, X-linked, with hyper-IgM • X-linked hyper-IgM syndrome • hyper-IgM syndrome due to CD40L deficiency • hyperimmunoglobulin M syndrome • immunodeficiency, X-linked, with hyper-IgM, X-linked recessive • X-linked hyper-IgM syndrome • XHIGM |
Immune disorders |
CD40LG CD40 ligand |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Kennedy disease |
• Bulbo-spinal atrophy X-linked • spinal and bulbar muscular atrophy of Kennedy, X-linked recessive • spinal and bulbar muscular atrophy, X-linked type 1 • spinal bulbar muscular atrophy • spinobulbar muscular atrophy • X-linked BSMA • X-linked bulbo-spinal atrophy • X-linked bulbospinal amyotrophy • X-linked bulbospinal muscular atrophy • X-linked spinal and bulbar muscular atrophy • Bulbospinal neuronopathy X-linked recessive • Kennedy spinal and bulbar muscular atrophy • Spinal and bulbar muscular atrophy • Spinal and bulbar muscular atrophy X-linked |
Neuromuscular disorders |
AR androgen receptor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Severe X-linked myotubular myopathy |
• X-linked myotubular myopathy • X-linked centronuclear myopathy • myotubular myopathy 1 • myotubular myopathy, X-linked |
Neuromuscular disorders |
DNM2 dynamin 2 MTM1 myotubularin 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Emery-Dreifuss muscular dystrophy 1, X-linked | Neuromuscular disorders |
EMD emerin |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| X-linked myopathy with excessive autophagy |
• Autophagic vacuolar myopathy • Vacuolar myopathy • myopathy, X-linked, with excessive autophagy, X-linked recessive • XMEA |
Neuromuscular disorders |
VMA21 vacuolar ATPase assembly factor VMA21 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Allan-Herndon-Dudley syndrome |
• MCT8-specific thyroid hormone cell-membrane transporter deficiency • monocarboxylate transporter 8 deficiency • MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency • mental retardation and muscular atrophy • monocarboxylate transporter-8 deficiency • T3 resistance • Triiodothyronine resistance • X-linked mental retardation with hypotonia • Allan-Herndon syndrome • MCT8 deficiency • MCT8-specific thyroid hormone cell membrane transporter deficiency • MCT8-Specific Thyroid Hormone Cell Transporter Deficiency • X-linked intellectual disability-hypotonia syndrome • AHDS |
Neurodevelopmental disorders |
SLC16A2 solute carrier family 16 member 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| X-linked sideroblastic anemia 1 |
• X-linked pyridoxine-refractory sideroblastic anemia • Anemia, sideroblastic, 1, X-linked recessive • sideroblastic anemia, X-linked • X-linked sideroblastic anaemia • X-linked sideroblastic anemia • XLSA • Anemia, sideroblastic, 1, pyridoxine refractory • Anemia, hereditary sideroblastic 1, pyridoxine refractory • Anemia, sideroblastic, 1 • Congenital sideroblastic anemia • Erythroid 5-aminolevulinate synthase deficiency • X chromosome-linked sideroblastic anemia |
Metabolic disorders |
ALAS2 5'-aminolevulinate synthase 2 SLC25A38 solute carrier family 25 member 38 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| X-linked agammaglobulinemia with growth hormone deficiency |
• Isolated growth hormone deficiency type iii • Fleisher syndrome • Agammaglobulinemia and isolated growth hormone deficiency, x-linked • Growth hormone deficiency with hypogammaglobulinemia • Congenital IGHD type III • IGHD III • Congenital isolated GH deficiency type III • Congenital isolated growth hormone deficiency type III • Growth hormone deficiency with hypogammaglobulinemia • isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive • X-linked agammaglobulinemia and isolated growth hormone deficiency • X-linked hypogammaglobulinemia and isolated growth hormone deficiency • X-linked IGHD • X-linked isolated growth hormone deficiency • Hypogammaglobulinemia and isolated growth hormone deficiency, x-linked • Isolated growth hormone deficiency, type iii • Isolated growth hormone deficiency, type iii, with agammaglobulinemia • Isolated growth hormone deficiency type 3 |
Endocrine disorders |
BTK Bruton tyrosine kinase |
Reports Updated as of Sep 08, 2025 |
PubMed |
| Congenital adrenal hypoplasia, X-linked |
• X-linked adrenal hypoplasia congenita • Adrenal hypoplasia, congenital, X-linked recessive • Congenital adrenal hypoplasia • X-linked congenital adrenal hypoplasia • Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism • Isolated X-Linked Adrenal Hypoplasia Congenita • X-Linked Adrenal Hypoplasia Congenita |
Endocrine disorders |
NR0B1 nuclear receptor subfamily 0 group B member 1 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| Choroideremia |
• Tapetochoroidal dystrophy • CHM • Progressive choroidal atrophy |
Eye disorders |
CHM CHM Rab escort protein |
Reports Updated as of Jun 12, 2025 |
PubMed |
| Creatine transporter deficiency |
• Cerebral creatine deficiency syndrome type 1 • cerebral creatine deficiency syndrome 1, x-linked recessive • mental retardation , x-linked with seizures, short stature and midface hypoplasia • mental retardation , x-linked, with creatine transport deficiency • slc6a8 deficiency • slc6a8 related creatine transporter deficiency • slc6a8-related creatine transporter deficiency • creatine transporter defect • X-linked creatine deficiency syndrome • X-linked creatine transporter deficiency |
Metabolic disorders |
SLC6A8 solute carrier family 6 member 8 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| X-linked lissencephaly with abnormal genitalia |
• X-linked Lissencephaly with agenesis of corpus callosum and genital anomaly syndrome • Lissencephaly, x-linked, type 2 • X-Linked Lissencephaly with ambiguous genitalia • x-linked lissencephaly with abnormal genitalia syndrome • x-linked lissencephaly with ambiguous genitalia • x-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome • x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome • xlag (x-linked lissencephaly with abnormal genitalia) syndrome |
Multisystemic disorders |
ARX aristaless related homeobox |
Reports Updated as of Nov 12, 2025 |
PubMed |
| Renpenning syndrome |
• Sutherland-Haan syndrome • Golabi-ITO-HALL syndrome • Hamel cerebropalatocardiac syndrome • mental retardation, x-linked renpenning type • porteous syndrome • renpenning syndrome type 1 • renpenning syndrome, x-linked recessive • sutherland-haan x-linked intellectual disability syndrome • syndromic x-linked intellectual disability 8 • x-linked intellectual deficit due to pqbp1 mutation • x-linked intellectual disability due to pqbp1 mutations • x-linked intellectual disability renpenning type • x-linked intellectual disability with spastic diplegia • x-linked intellectual disability, renpenning type • X-linked mental retardation syndromic 3 • X-linked mental retardation with spastic diplegia |
Neurodevelopmental disorders |
PQBP1 polyglutamine binding protein 1 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| Blepharophimosis - intellectual disability syndrome, MKB type |
• Blepharophimosis-mental retardation syndrome, maat-kievit-brunner type • Ohdo syndrome, X-linked • blepharophimosis-intellectual disability syndrome maat-kievit-brunner type • blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type • BMRS, Maat-Kievit-Brunner type • BMRS, MKB type • Ohdo syndrome, Maat-Kievit-Brunner type • Ohdo syndrome, x-linked, x-linked recessive |
Neurodevelopmental disorders |
MED12 mediator complex subunit 12 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| Shukla-Vernon syndrome | Neurodevelopmental disorders |
BCORL1 BCL6 corepressor like 1 |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| Borjeson-Forssman-Lehmann syndrome |
• Borjeson-Forssman-Lehmann syndrome, X-linked recessive • Börjeson-Forssman-Lehman Syndrome • intellectual deficiency-epilepsy-endocrine disorders syndrome • intellectual disability-epilepsy-endocrine disorders syndrome • intellectual disability, epilepsy, and endocrine disorder • syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type • MRXSBFL • BFLS • BORJ |
Neurodevelopmental disorders |
PHF6 PHD finger protein 6 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| CK syndrome |
• Mental retardation, x-linked, with thin body habitus and cortical malformation • CK syndrome, x-linked recessive • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome • X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome |
Neurodevelopmental disorders |
NSDHL NAD(P) dependent steroid dehydrogenase-like |
Reports Updated as of Nov 12, 2025 |
PubMed |
| Trigonocephaly-short stature-developmental delay syndrome |
• Say-Meyer syndrome • Trigonocephaly with short stature and developmental delay • Trigonocephaly, short stature, developmental delay syndrome • Say Meyer syndrome • Trigonocephaly, short stature and developmental delay • Trigonocephaly, short stature, and retarded psychomotor development |
Neurodevelopmental disorders |
HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
Reports Updated as of Nov 12, 2025 |
PubMed |
| X-linked intellectual disability, van Esch type |
• Van Esch-O'Driscoll syndrome • Mental retardation, x-linked, syndromic, Van Esch-O''Driscoll type • Van Esch-O'Driscoll syndrome, x-linked recessive • VEODS • x-linked intellectual disability van esch type |
Multisystemic disorders |
POLA1 DNA polymerase alpha 1, catalytic subunit |
Reports Updated as of Nov 12, 2025 |
PubMed |
| Simpson-Golabi-Behmel syndrome type 1 |
• Bulldog syndrome • Simpson-Golabi-Behmel syndrome • Dysplasia gigantism syndrome, x-linked • Golabi-Rosen syndrome • GPC3-related Simpson-Golabi-Behmel syndrome type 1 • Simpson dysmorphia syndrome • Sara Angers syndrome • x-linked dysplasia gigantism syndrome • sgb syndrome • dgsx • sdys • sgbs1 |
Multisystemic disorders |
GPC3 glypican 3 |
Reports Updated as of Nov 12, 2025 |
PubMed |