| Syndrome |
Gene |
Chromosome |
Location |
Category |
| MAB21 C. ELEGANS HOMOLOG-LIKE 2 | MAB21L2 | 4 | q31.3 | Autism spectrum | |
| Mabry syndrome | PGAP2 | 11 | p15.4 | Autism spectrum | |
| Mabry syndrome | PIGO | 9 | p13.3 | Autism spectrum | |
| Mabry syndrome | PIGV | 1 | p36.11 | Autism spectrum | |
| MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT | MACID | 9 | p23-p22 | Autism spectrum | |
| Macrocephaly with alopecia and cutis laxa and scoliosis (MACS syndrome) | RIN2 | 20 | p11.23 | Alopecia | |
| Mainzer-Saldino syndrome | IFT140 | 16 | p13.3 | Ataxia spectrum | |
| Malignant hyperthermia | CACNA1S | 1 | q32 | Tachycardia (>100 beats/minute) | |
| Mandibulofacial dysostosis with microcephaly | EFTUD2 | 17 | q21.31 | Microcephaly | |
| MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1 | MARK1 | 1 | q41 | Autism spectrum | |
| Marfan syndroe | FBN1 | 15 | q21.1 | Cataracts | |
| Marinesco-Sjögren syndrome type 1 | SIL1 | 5 | q31.2 | Cataracts | |
| Marinesco-Sjögren syndrome type 2 | SIL1 | 5 | q31.2 | Ataxia spectrum | |
| Maternally inherited diabetes and deafness | MT-TE | 0 | 14674-742 | Diabetes | |
| Maternally inherited diabetes and deafness | MT-TK | 0 | 8295-8364 | Diabetes | |
| Maternally inherited diabetes and deafness | MT-TL1 | 0 | 3230-3304 | Diabetes | |
| McCune-Albright syndrome | GNAS | 20 | q13.3 | Tachycardia (>100 beats/minute) | |
| McCune-Albright syndrome (overactive thyroid) | GNAS | 20 | q13.32 | Hyperthyroidism | |
| MECHANISTIC TARGET OF RAPAMYCIN | MTOR | 1 | p36.22 | Autism spectrum | |
| Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | 1 | p31.1 | Reye`s Syndrome-like diseases | |
| Meesmann corneal dystrophy | KRT12 | 17 | q21.2 | Photophobia - sensitivity to light | |
| Meesmann corneal dystrophy | KRT3 | 12 | q13.13 | Photophobia - sensitivity to light | |
| MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA | MCCCHCM | 19 | p13.13 | Autism spectrum | |
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | MLC2A | 11 | q24.2 | Autism spectrum | |
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B | MLC2B | 11 | q24.2 | Autism spectrum | |
| Megalencephalic leukoencephalopathy with subcortical cysts type 01 | MLC1 | 22 | q13.33 | Ataxia spectrum | |
| Megalencephalic leukoencephalopathy with subcortical cysts type 02 | HEPACAM | 11 | q24.2 | Ataxia spectrum | |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | AKT3 | 1 | q43-44 | Autism spectrum | |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | CCND2 | 12 | p13.32 | Autism spectrum | |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | PIK3R2 | 19 | p13.11 | Autism spectrum | |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | MPPH1 | 19 | p13.11 | Autism spectrum | |
| MEHMO SYNDROME | MEHMO | 23 | p22.11 | Autism spectrum | |
| Meier-Gorlin syndrome | CDC6 | 17 | q21.3 | Microcephaly | |
| Meier-Gorlin syndrome | CDT1 | 16 | q24.3 | Microcephaly | |
| Meier-Gorlin syndrome | ORC1 | 1 | p32 | Microcephaly | |
| Meier-Gorlin syndrome | ORC4 | 2 | q22-23 | Microcephaly | |
| Meier-Gorlin syndrome | ORC6 | 16 | q12 | Microcephaly | |
| MENKE-HENNEKAM SYNDROME 1 | MKHK1 | 16 | p13.3 | Autism spectrum | |
| MENKE-HENNEKAM SYNDROME 2 | MKHK2 | 22 | q13.2 | Autism spectrum | |
| Menkes syndrome. | ATP7A | 23 | q21.1 | Copper metabolism defects | |
| MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES | MRFACD | 12 | q24.21 | Autism spectrum | |
| Mental retardation autosomal dominant 05 (MRD5) | SYNGAP1 | 6 | p21.32 | Autism spectrum | |
| Mental retardation autosomal dominant 06 (MRD6) | GRIN2B | 12 | p13.1 | Autism spectrum | |
| Mental retardation autosomal dominant 07 (MRD7) | DYRK1A | 21 | q22.13 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 1 | MRD1 | 2 | q23.1 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 13 | MRD13 | 14 | q32.31 | Autism spectrum | |
| Mental retardation autosomal dominant 13 (MRD13) | DYNC1H1 | 14 | q32.31 | Autism spectrum | |
| Mental retardation autosomal dominant 20 | MEF2C | 5 | q14.3 | Autism spectrum | |
| Mental retardation autosomal dominant 20 | MRD20 | 5 | q14.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 21 | MRD21 | 16 | q22.1 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 23 | MRD23 | 3 | p25.3 | Autism spectrum | |
| Mental retardation autosomal dominant 23 (MRD23) | SETD5 | 3 | p25.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 24 | MRD24 | 11 | p15.5 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 26 | MRD26 | 7 | q11.22 | Autism spectrum | |
| Mental retardation autosomal dominant 26 (MRD26) | AUTS2 | 7 | q11.22 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 29 | MRD29 | 18 | q12.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 30 | MRD30 | 10 | p15.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 32 | MRD32 | 8 | p11.21 | Autism spectrum | |
| Mental retardation autosomal dominant 37 (MRD37) | MYT1L | 2 | p25.3 | Autism spectrum | |
| Mental retardation autosomal dominant 37 (MRD37) | POGZ | 1 | q21.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 38 | MRD38 | 20 | q13.33 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 39 | MRD39 | 2 | p25.3 | Autism spectrum | |
| Mental retardation autosomal dominant 40 | CHAMP1 | 13 | q34 | Autism spectrum | |
| Mental retardation autosomal dominant 40 | MRD40 | 13 | q34 | Autism spectrum | |
| Mental retardation autosomal dominant 40 | ZNF462 | 9 | q31.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 41 | MRD41 | 3 | q26.32 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 42 | MRD42 | 1 | p36.33 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 43 | MRD43 | 6 | q24.2 | Autism spectrum | |
| Mental retardation autosomal dominant 44 | MRD44 | 5 | p15.2 | Autism spectrum | |
| Mental retardation autosomal dominant 44 | TRIO | 5 | p15.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 45 | MRD45 | 19 | q13.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 47 | MRD47 | 3 | q22.3 | Autism spectrum | |
| Mental retardation autosomal dominant 49 | MRD49 | 2 | q36.3 | Autism spectrum | |
| Mental retardation autosomal dominant 49 | TRIP12 | 2 | q36.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 5 | MRD5 | 6 | p21.32 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 50 | MRD50 | 4 | q31.1 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 51 | MRD51 | 11 | q13.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 52 | MRD52 | 1 | q22 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 53 | MRD53 | 5 | q32 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 54 | MRD54 | 7 | p13 | Autism spectrum | |
| Mental retardation autosomal dominant 55 with seizures | MRD55 | 6 | q22.1 | Epilepsy and seizures | |
| Mental retardation autosomal dominant 55 with seizures | NUS1 | 6 | q22.1 | Epilepsy and seizures | |
| Mental retardation autosomal dominant 57 | MRD57 | 17 | q23.2 | Autism spectrum | |
| Mental retardation autosomal dominant 57 | TLK2 | 17 | q23.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 6 | MRD6 | 12 | p13.1 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL DOMINANT 7 | MRD7 | 21 | q22.13 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 | MRT13 | 8 | q24.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 15 | MRT15 | 9 | q34.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 2 | MRT2 | 3 | p26.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 25 | MRT25 | 12 | q13.11-q15 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 29 | MRT29 | 4 | q27-q28.2 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 3 | MRT3 | 19 | p13.12 | Autism spectrum | |
| Mental retardation autosomal recessive 34 (MRT34) | CRADD | 12 | q21.33-23 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY | MRT34 | 12 | q22 | Autism spectrum | |
| Mental retardation autosomal recessive 37 (MRT37) | ANK3 | 10 | q21 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 38 | MRT38 | 15 | q13.1 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 41 | MRT41 | 19 | q13.32 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 44 | MRT44 | 17 | q25.1 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 5 | MRT5 | 5 | p15.31 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 53 | MRT53 | 4 | p16.3 | Autism spectrum | |
| Mental retardation autosomal recessive 57 | MBOAT7 | 19 | q13.42 | Autism spectrum | |
| Mental retardation autosomal recessive 57 | MRT57 | 19 | q13.42 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 61 | MRT61 | 9 | p13.3 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 66 | MRT66 | 12 | p13.32 | Autism spectrum | |
| MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 | MRT7 | 8 | p22 | Autism spectrum | |
| Mental retardation with language impairment | FOXP1 | 3 | p13 | Autism spectrum | |
| Mental retardation X-linked syndromic Bain type | HNRNPH2 | 23 | q22.1 | Autism spectrum | |
| Mental retardation X-linked 1 | IQSEC2 | 23 | p11.22 | Autism spectrum | |
| Mental retardation X-linked 1 | MRX1 | 23 | p11.22 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 102 | MRX102 | 23 | p11.4 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 104 | MRX104 | 23 | p22.2 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 21 | MRX21 | 23 | P21.2-3 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 63 | MRX63 | 23 | q23 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 72 | MRX72 | 23 | q28 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 73 | MRX73 | 23 | p22.2 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 82 | MRX82 | 23 | q24-q25 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 88 | MRX88 | 23 | q24 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 9 | MRX9 | 23 | p11.23 | Autism spectrum | |
| Mental retardation X-linked 94 (MRX94) | DDX3X | 23 | p11.4 | Autism spectrum | |
| Mental retardation X-linked 94 (MRX94) | GRIA3 | 23 | q25 | Autism spectrum | |
| Mental retardation X-linked 94 (MRX94) | KIAA2022 | 23 | q13.3 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 97 | MRX97 | 23 | q21.1 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 98 | MRX98 | 23 | q13.3 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED | MRXS99F | 23 | p11.4 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE | FRAXE | 23 | q28 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC 13 | MRXS13 | 23 | q28 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC 14 | MRXS14 | 23 | q24 | Autism spectrum | |
| Mental retardation X-linked syndromic 14 (MRXS14) | UPF3B | 23 | q24 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC 33 | MRXS33 | 23 | q13.1 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC 34 | MRXS34 | 23 | q13.1 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE | MRXSB | 23 | q22.1 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE | MRXSCH | 23 | q26.3 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE | MRXSCJ | 23 | p11.22 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE | MRXSHG | 23 | p22.12 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE | MRXST | 23 | p11.22 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPE | MRXSW | 23 | q25 | Autism spectrum | |
| MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIA | OPHN1 | 23 | q12 | Autism spectrum | |
| MET PROTOONCOGENE | MET | 7 | q31.2 | Autism spectrum | |
| METHYL-CpG-BINDING DOMAIN PROTEIN 1 | MBD1 | 18 | q21.1 | Autism spectrum | |
| Methylenetetrahydrofolate reductase error syndrome | MTHFR | 1 | p36.3 | Cleft lip / cleft palate | |
| methylmalonic acidemia | MCEE | 2 | p13.3 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia | MMAA | 4 | q31.21 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia | MMAB | 12 | q24.11 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia | MUT | 6 | p12.3 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia with homocystinuria | ABCD4 | 14 | q24.3 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia with homocystinuria | HCFC1 | 23 | q28 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia with homocystinuria | LMBRD1 | 6 | q13 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia with homocystinuria | MMACHC | 1 | p34.1 | Vitamin B12 metabolism spectrum | |
| methylmalonic acidemia with homocystinuria | MMADHC | 2 | q23.2 | Vitamin B12 metabolism spectrum | |
| Methylmalonic aciduria - transient - due to transcobalamin receptor defect | CD320 | 19 | p13.2 | Vitamin B12 metabolism spectrum | |
| Mevalonate kinase deficiency | MVK | 12 | q24.11 | Microcephaly | |
| Michels syndrome | MASP1 | 3 | q27-28 | Cleft lip / cleft palate | |
| Microcephaly epilepsy and diabetes syndrome | IER3IP1 | 18 | q12 | Microcephaly | |
| Microcephaly - other | AAAS | 12 | q13.13 | Microcephaly | |
| Microcephaly - other | ABCD4 | 14 | q24.3 | Microcephaly | |
| Microcephaly - other | ADSL | 22 | q13.1 | Microcephaly | |
| Microcephaly - other | AFF4 | 5 | q31.1 | Microcephaly | |
| Microcephaly - other | AKT3 | 1 | q44 | Microcephaly | |
| Microcephaly - other | ALG12 | 22 | q13.33 | Microcephaly | |
| Microcephaly - other | ANKLE2 | 12 | q24 | Microcephaly | |
| Microcephaly - other | ARID1A | 1 | p36.11 | Microcephaly | |
| Microcephaly - other | ARID1B | 6 | q25.3 | Microcephaly | |
| Microcephaly - other | ATRX | 23 | q21.1 - al | Microcephaly | |
| Microcephaly - other | ATRX | 23 | q21.1 | Microcephaly | |
| Microcephaly - other | BRCA2 | 13 | q13.1 | Microcephaly | |
| Microcephaly - other | BRIP1 | 17 | q23.2 | Microcephaly | |
| Microcephaly - other | CASC5 | 15 | q14 | Microcephaly | |
| Microcephaly - other | CCBE1 | 18 | q21.32 | Microcephaly | |
| Microcephaly - other | CHRNA1 | 2 | q31.1 | Microcephaly | |
| Microcephaly - other | CHRND | 2 | q37.1 | Microcephaly | |
| Microcephaly - other | CHRNG | 2 | q37.1 | Microcephaly | |
| Microcephaly - other | CIT | 12 | q24 | Microcephaly | |
| Microcephaly - other | CKAP2L | 2 | q14.1 | Microcephaly | |
| Microcephaly - other | CYB5R3 | 22 | q13.2 | Microcephaly | |
| Microcephaly - other | DCX | 23 | q23 | Microcephaly | |
| Microcephaly - other | DHCR7 | 11 | q13.4 | Microcephaly | |
| Microcephaly - other | DISP1 | 1 | q41 | Microcephaly | |
| Microcephaly - other | DPYD | 1 | p21.3 | Microcephaly | |
| Microcephaly - other | EHMT1 | 9 | q34.3 | Microcephaly | |
| Microcephaly - other | EMG1 | 12 | p13.31 | Microcephaly | |
| Microcephaly - other | ESCO2 | 8 | p21.1 | Microcephaly | |
| Microcephaly - other | FANCA | 16 | q24.3 | Microcephaly | |
| Microcephaly - other | FANCB | 23 | p22.2 | Microcephaly | |
| Microcephaly - other | FANCC | 9 | q22.32 | Microcephaly | |
| Microcephaly - other | FANCD2 | 3 | p25.3 | Microcephaly | |
| Microcephaly - other | FANCE | 6 | p21.31 | Microcephaly | |
| Microcephaly - other | FANCF | 11 | p14.3 | Microcephaly | |
| Microcephaly - other | FANCG | 9 | p13.3 | Microcephaly | |
| Microcephaly - other | FANCI | 15 | q26.1 | Microcephaly | |
| Microcephaly - other | FANCL | 2 | p16.1 | Microcephaly | |
| Microcephaly - other | FANCM | 14 | q21.2 | Microcephaly | |
| Microcephaly - other | FAR1 | 11 | p15.3 | Microcephaly | |
| Microcephaly - other | FAT4 | 4 | q28.1 | Microcephaly | |
| Microcephaly - other | FGF8 | 10 | q24.32 | Microcephaly | |
| Microcephaly - other | FOXG1 | 14 | q12 | Microcephaly | |
| Microcephaly - other | FOXH1 | 8 | q24.3 | Microcephaly | |
| Microcephaly - other | FOXL2 | 3 | q22.3 | Microcephaly | |
| Microcephaly - other | GLI2 | 2 | q14.2 | Microcephaly | |
| Microcephaly - other | HCFC1 | 23 | q28 | Microcephaly | |
| Microcephaly - other | HDAC8 | 23 | q13.1 | Microcephaly | |
| Microcephaly - other | KAT6B | 10 | q22.2 | Microcephaly | |
| Microcephaly - other | KCNT1 | 9 | q34.3 | Microcephaly | |
| Microcephaly - other | KDM6A | 23 | p11.3 | Microcephaly | |
| Microcephaly - other | KMT2D | 12 | q13.12 | Microcephaly | |
| Microcephaly - other | KNL1 | 15 | q15.1 | Microcephaly | |
| Microcephaly - other | LETM1 | 4 | p16.3 | Microcephaly | |
| Microcephaly - other | LMBRD1 | 6 | q13 | Microcephaly | |
| Microcephaly - other | MBD5 | 2 | q23.1 | Microcephaly | |
| Microcephaly - other | MECP2 | 23 | q28.1 | Microcephaly | |
| Microcephaly - other | MFSD2A | 1 | p34.2 | Microcephaly | |
| Microcephaly - other | MMACHC | 1 | P34.1 | Microcephaly | |
| Microcephaly - other | MMSDHC | 2 | q23.2 | Microcephaly | |
| Microcephaly - other | MSX1 | 4 | p16.2 | Microcephaly | |
| Microcephaly - other | NADK | 1 | p36.33 | Microcephaly | |
| Microcephaly - other | NADK2 | 5 | p13.2 | Microcephaly | |
| Microcephaly - other | NDE1 | 16 | p13.11 | Microcephaly | |
| Microcephaly - other | NIPBL | 5 | p13.2 | Microcephaly | |
| Microcephaly - other | NODAL | 10 | q22.1 | Microcephaly | |
| Microcephaly - other | NSD2 | 4 | p16.3 | Microcephaly | |
| Microcephaly - other | OCA2 | 15 | q13.1 | Microcephaly | |
| Microcephaly - other | PAFAH1B1 | 17 | p13.3 | Microcephaly | |
| Microcephaly - other | PAH | 12 | q23.2 | Microcephaly | |
| Microcephaly - other | PALB2 | 16 | P12.2 | Microcephaly | |
| Microcephaly - other | PPP1R15B | 1 | q32.1 | Microcephaly | |
| Microcephaly - other | PTCH1 | 9 | q22.32 | Microcephaly | |
| Microcephaly - other | PTRH2 | 17 | q23.1 | Microcephaly | |
| Microcephaly - other | RAD21 | 8 | q24.11 | Microcephaly | |
| Microcephaly - other | RAD51C | 17 | q22 | Microcephaly | |
| Microcephaly - other | RAPSN | 11 | p11.2 | Microcephaly | |
| Microcephaly - other | RNASEH2A | 19 | p13.13 | Microcephaly | |
| Microcephaly - other | RNASEH2B | 13 | q14.3 | Microcephaly | |
| Microcephaly - other | RNASEH2C | 11 | q13.1 | Microcephaly | |
| Microcephaly - other | RNASET2 | 6 | q27 | Microcephaly | |
| Microcephaly - other | RPL11 | 1 | p36.11 | Microcephaly | |
| Microcephaly - other | RPL35A | 3 | q29 | Microcephaly | |
| Microcephaly - other | RPL5 | 1 | p22.1 | Microcephaly | |
| Microcephaly - other | RPS10 | 6 | p21.31 | Microcephaly | |
| Microcephaly - other | RPS17 | 15 | q25.2 | Microcephaly | |
| Microcephaly - other | RPS19 | 19 | q13.2 | Microcephaly | |
| Microcephaly - other | RPS24 | 10 | q22.3 | Microcephaly | |
| Microcephaly - other | RPS26 | 12 | q13.2 | Microcephaly | |
| Microcephaly - other | RPS7 | 2 | p25.3 | Microcephaly | |
| Microcephaly - other | RRM2B | 8 | q22.3 | Microcephaly | |
| Microcephaly - other | SAMHD1 | 20 | q11.23 | Microcephaly | |
| Microcephaly - other | SASS6 | 1 | p21 | Microcephaly | |
| Microcephaly - other | SCN1A | 2 | q24.3 | Microcephaly | |
| Microcephaly - other | SHH | 7 | q36.3 | Microcephaly | |
| Microcephaly - other | SIX3 | 2 | p21 | Microcephaly | |
| Microcephaly - other | SLC1A4 | 2 | p14 | Microcephaly | |
| Microcephaly - other | SLC2A1 | 1 | p34.2 | Microcephaly | |
| Microcephaly - other | SLX4 | 16 | p13.3 | Microcephaly | |
| Microcephaly - other | SMARCA2 | 9 | p24.3 | Microcephaly | |
| Microcephaly - other | SMARCA4 | 19 | p13.2 | Microcephaly | |
| Microcephaly - other | SMARCB1 | 22 | q11.23 | Microcephaly | |
| Microcephaly - other | SMARCE1 | 17 | q21.2 | Microcephaly | |
| Microcephaly - other | SMC1A | 23 | p11.22 | Microcephaly | |
| Microcephaly - other | SMC3 | 10 | q25.2 | Microcephaly | |
| Microcephaly - other | TBC1D24 | 16 | p13.3 | Microcephaly | |
| Microcephaly - other | TCF4 | 18 | q21.2 | Microcephaly | |
| Microcephaly - other | TDGF1 | 3 | p21.31 | Microcephaly | |
| Microcephaly - other | TGIF1 | 18 | p11.31 | Microcephaly | |
| Microcephaly - other | TREX1 | 3 | p21.31 | Microcephaly | |
| Microcephaly - other | TUBA1A | 12 | q13.12 | Microcephaly | |
| Microcephaly - other | TUBGCP4 | 15 | q15.3 | Microcephaly | |
| Microcephaly - other | UBE3A | 15 | q11.2 | Microcephaly | |
| Microcephaly - other | UBE3B | 12 | q24.11 | Microcephaly | |
| Microcephaly - other | XRCC4 | 5 | q14.2 | Microcephaly | |
| Microcephaly - other | ZIC2 | 13 | q32.3 | Microcephaly | |
| Microcephaly seizures and developmental delay (MCSZ) | PNKP | 19 | q13.3-13.4 | Microcephaly | |
| Microcephaly short stature and impaired glucose metabolism | TRMT10A | 4 | q23 | Microcephaly | |
| Microcephaly 08 primary autosomal recessive (MCPH8) | CEP135 | 4 | q12 | Microcephaly | |
| Microcephaly 10 primary autosomal recessive (MCPH10) | ZNF335 | 20 | q13.12 | Microcephaly | |
| Microcephaly 11 primary autosomal recessive (MCPH11) | PHC1 | 12 | q13 | Microcephaly | |
| Microcephaly 12 primary autosomal recessive (MCPH12) | CDK6 | 7 | q21-q22 | Microcephaly | |
| Microcephaly 13 primary autosomal recessive (MCPH13) | CENPE | 4 | q24-q25 | Microcephaly | |
| MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE | MCPH15 | 1 | p34.2 | Autism spectrum | |
| MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE | MCPH17 | 12 | q24.23 | Autism spectrum | |
| MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE | MCPH20 | 1 | q32.1 | Autism spectrum | |
| MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE | MCPH21 | 12 | p13.31 | Autism spectrum | |
| Microcephaly and chorioretinopathy autosomal recessive 1 (MCCRP1) | TUBGCP6 | 22 | q13.31-.33 | Microcephaly | |
| Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2) | PLK4 | 4 | q28 | Microcephaly | |
| Microcephaly postnatal progressive with seizures and brain atrophy | MED17 | 11 | q14 | Microcephaly | |
| Microcephaly progressive with seizures cerebral/cerebellar atrophy (MSCCA) | QARS | 3 | p21.31 | Microcephaly | |
| Microcephaly-capillary malformation syndrome | STAMBP | 2 | p13.1 | Microcephaly | |
| Microphthalmia isolated 5 (MCOP5) | MFRP | 11 | q23.3 | Microphthalmia | |
| Microphthalmia isolated with coloboma 3 (MCOPCB3) | GDF3 | 12 | p13.31 | Microphthalmia | |
| Microphthalmia isolated with coloboma 3 (MCOPCB3) | GDF6 | 8 | q22.1 | Microphthalmia | |
| Microphthalmia isolated with coloboma 3 (MCOPCB3) | OTX2 | 14 | q22.3 | Microphthalmia | |
| Microphthalmia isolated with coloboma 3 (MCOPCB3) | STRA6 | 15 | q24.1 | Microphthalmia | |
| Microphthalmia isolated with coloboma 3 (MCOPCB3) | VSX2 | 14 | q24.3 | Microphthalmia | |
| Microphthalmia syndromic 6 (MCOPS6) | BMP4 | 14 | q22.2 | Microphthalmia | |
| Microphthalmia syndromic 6 (MCOPS6) | PRSS56 | 2 | q37.1 | Microphthalmia | |
| Microphthalmia syndromic 6 (MCOPS6) | RAX | 18 | q21.32 | Microphthalmia | |
| Microphthalmia syndromic 6 (MCOPS6) | SOX2 | 3 | q26.33 | Microphthalmia | |
| MICROPHTHALMIA ISOLATED 3 | MCOP3 | 18 | q21.32 | Autism spectrum | |
| MICROPHTHALMIA ISOLATED 8 | MCOP8 | 15 | q26.3 | Autism spectrum | |
| MICROPHTHALMIA SYNDROMIC 1 | MCOPS1 | 23 | q28 | Autism spectrum | |
| MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | MCSKS | 4 | q31.3 | Autism spectrum | |
| MICROTUBULE-ASSOCIATED PROTEIN 2 | MAP2 | 2 | q34 | Autism spectrum | |
| MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1 | MAST1 | 19 | p13.13 | Autism spectrum | |
| microvascular complications of diabetes 1 | VEGFA | 6 | p21.1 | Diabetes | |
| Microvascular complications of diabetes 2 | EPO | 7 | q22.1 | Diabetes | |
| Microvascular complications of diabetes 5 | PON1 | 7 | q21.3 | Diabetes | |
| MIGRAINE FAMILIAL HEMIPLEGIC 2 | FHM2 | 1 | q23.2 | Autism spectrum | |
| Miller syndrome | DHODH | 16 | q22 | Cleft lip / cleft palate | |
| Mitchell-Riley syndrome | RFX6 | 6 | q22.1 | Diabetes | |
| Mitochondrial complex I deficiency | NDUFB3 | 2 | q33.1 | Vitamin B12 metabolism spectrum | |
| Mitochondrial complex III deficiency nuclear 7 (MC3DN7) | UQCC2 | 6 | p21.31 | Autism spectrum | |
| MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7 | MC3DN7 | 6 | p21.31 | Autism spectrum | |
| Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | MT-ND1 | 0 | 3307 | Ataxia spectrum | |
| Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | MT-ND5 | 0 | 12337 | Ataxia spectrum | |
| Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | MT-TV | 0 | 1602 | Ataxia spectrum | |
| Mitochondrial trifunctional protein deficiency | HADHA | 2 | p23.3 | Reye`s Syndrome-like diseases | |
| Mitochondrial trifunctional protein deficiency | HADHB | 2 | p23.3 | Reye`s Syndrome-like diseases | |
| Mobius Syndrome | D3S196 | 13 | q12.2-q13 | Autism spectrum | |
| MOEBIUS SYNDROME | MBS | 13 | q12.2-q13 | Autism spectrum | |
| Molybdenum cofactor deficiency | GPHN | 14 | q22.3 | Microcephaly | |
| Molybdenum cofactor deficiency | MOCS1 | 6 | p21.3 | Microcephaly | |
| Molybdenum cofactor deficiency | MOCS2 | 5 | q11 | Microcephaly | |
| Monoamine oxidase A deficiency | MAOA | 23 | p11.3 | Autism spectrum | |
| MOUSE DOUBLE MINUTE 4 HOMOLOG | MDM4 | 1 | q32.1 | Autism spectrum | |
| Mowat-Wilson syndrome | ZEB2 | 2 | q22.3 | Microcephaly | |
| MUCOPOLYSACCHARIDOSIS TYPE IIIB | MPS3B | 17 | q21.2 | Autism spectrum | |
| Multiminicore disease | RYR1 | 19 | q13.2 | Arthrogryposis spectrum | |
| Multiminicore disease | SEPN1 | 1 | p36.13 | Arthrogryposis spectrum | |
| Multiple pterygium syndrome | CHRNG | 2 | q37.1 | Arthrogryposis spectrum | |
| Multiple system atrophy | COQ2 | 4 | q21.22 | Ataxia spectrum | |
| Multiple system atrophy | SNCA | 4 | q22.1 | Ataxia spectrum | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10 | MDDGA10 | 12 | q14.2 | Autism spectrum | |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1 | MDDGB1 | 9 | q34.13 | Autism spectrum | |
| MYH9-related disorder | MYH9 | 22 | q12.3 | Cataracts | |
| Myhre syndrome | MYHRS | 18 | q21.2 | Cleft lip / cleft palate | |
| Myhre syndrome | SMAD4 | 18 | q21.1 | Cleft lip / cleft palate | |
| Myoclonic epilepsy myopathy sensory ataxia | POLG | 15 | q26.1 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TF | 0 | 577-647 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TH | 0 | 12138-206 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TK | 0 | 8295-364 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TL1 | 0 | 3230-304 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TP | 0 | 15956 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TS1 | 0 | 7446-514 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TS2 | 0 | 12207-65 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers | MT-TT | 0 | 15888-953 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TF | 0 | 577 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TH | 0 | 12138 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TK | 0 | 8295 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TL1 | 0 | 3230-3304 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TP | 0 | 15956 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TS1 | 0 | 7446 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | MT-TS2 | 0 | 12207 | Epilepsy and seizures | |
| Myoclonic epilepsy with ragged-red fibers (MERRF) | SLC6A1 | 3 | p25.3 | Epilepsy and seizures | |
| MYOCLONIC-ATONIC EPILEPSY | MAE | 3 | p25.3 | Autism spectrum | |
| Myofibrillar myopathy | BAG3 | 10 | q26.11 | Muscular dystrophies | |
| Myofibrillar myopathy | CRYAB | 11 | q23.1 | Muscular dystrophies | |
| Myofibrillar myopathy | DES | 2 | q35 | Muscular dystrophies | |
| Myofibrillar myopathy | FLNC | 7 | q32.1 | Muscular dystrophies | |
| Myofibrillar myopathy | LDB3 | 10 | q23.2 | Muscular dystrophies | |
| Myofibrillar myopathy | MYOT | 5 | q31.2 | Muscular dystrophies | |
| MYOPATHY MITOCHONDRIAL AND ATAXIA | MMYAT | 1 | q22 | Autism spectrum | |