Rare Disease Library

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

MRCS syndrome

Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome

Muenke syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

N syndrome

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

PEHO-like syndrome

Prader-Willi-like syndrome

PWS-like

Proteus-like syndrome

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Buntinx-Lormans-Martin syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Sagliker syndrome

Scalp-ear-nipple syndrome

Finlay-Marks syndrome

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Toxic epidermal necrolysis

Lyell syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

W syndrome

Pallister-W syndrome

Weaver-like syndrome

Wolfram-like syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag