Rare Disease Library

Microscopic polyangiitis

MPA · Micropolyangiitis

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

Mixed phenotype acute leukemia

MPAL

Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1

Mixed phenotype acute leukemia with t(v;11q23.3)

MPAL with t(v;11q23.3); KMT2A rearranged · MPAL with t(v;11q23.3); MLL rearranged

46,XY difference of sex development due to impaired androgen production

46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production

Cerebral visual impairment

Cortical visual impairment

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

CMV disease in patients with impaired cell mediated immunity deemed at risk

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

DAIPT · Distal arthrogryposis with impaired proprioception and touch

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Familial isolated hypoparathyroidism due to impaired PTH secretion

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

Left ventricular noncompaction

LVNC · Left ventricular hypertrabeculation

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Mesial temporal lobe epilepsy with hippocampal sclerosis

MTLE-HS · Hippocampal sclerosis-related mesial temporal lobe epilepsy

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Neuropathy with hearing impairment

Periodic paralysis with transient compartment-like syndrome

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Secondary hypoparathyroidism due to impaired parathormon secretion

Sympathetic ophthalmia

Sympathetic uveitis