Rare Disease Library

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder

Microcephaly-deafness-intellectual disability syndrome

Kawashima-Tsuji syndrome · Microcephaly-hearing loss-intellectual disability syndrome

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 1 syndrome · Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome

Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

Woods-Crouchman-Huson syndrome

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Microcephaly-seizures-intellectual disability-heart disease syndrome

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

Mikati-Najjar-Sahli syndrome

Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability 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

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Myhre syndrome

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

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Paraplegia-intellectual disability-hyperkeratosis syndrome

Fitzsimmons-McLachlan-Gilbert syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome