Rare Disease Library

MOMO syndrome

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

Moynahan syndrome

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

Northern epilepsy

Progressive epilepsy-intellectual disability syndrome, Finnish type · CLN8 disease, Northern epilepsy variant

OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome

OBSOLETE: Mollica-Pavone-Antener syndrome

OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome

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

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

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

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Richards-Rundle syndrome

Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

Delpire-McNeill syndrome

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

X-linked spasticity-intellectual disability-epilepsy syndrome