Rare Disease Library

Mosaic Legius syndrome

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

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

3M syndrome

3-M syndrome · Yakut short stature syndrome

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Fraser-like syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Lethal Larsen-like syndrome

Liddle syndrome

Pseudoaldosteronism

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Moebius syndrome

Möbius syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Mosaic monosomy X syndrome

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20