spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis

mitochondrial complex V (ATP synthase) deficiency nuclear type 6

stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

encephalopathy due to defective mitochondrial and peroxisomal fission 1

cerebellar hyplasia/atrophy, epilepsy, and global developmental delay

pancreatic hypoplasia-diabetes-congenital heart disease syndrome

neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies

vertebral anomalies and variable endocrine and T-cell dysfunction

myeloid and lymphoid neoplasms associated with PDGFRA rearrangement

myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1

congenital muscular dystrophy with cataracts and intellectual disability

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

epidermolysis bullosa with congenital localized absence of skin and deformity of nails

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions  6

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

immunodeficiency-centromeric instability-facial anomalies syndrome

immunodeficiency-centromeric instability-facial anomalies syndrome 2

immunodeficiency-centromeric instability-facial anomalies syndrome 1

X-linked intellectual disability-psychosis-macroorchidism syndrome

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3

congenital heart defects, hamartomas of tongue, and polysyndactyly

extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue

microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

autosomal recessive pyridoxine-refractory sideroblastic anemia 3

juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

familial progressive hyperpigmentation with or without hypopigmentation

systemic Epstein-Barr virus positive T-cell lymphoma of childhood

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

developmental delay and seizures with or without movement abnormalities

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

intellectual disability-severe speech delay-mild dysmorphism syndrome

early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

inclusion body myopathy with Paget disease of bone and frontotemporal dementia

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

congenital muscular dystrophy due to integrin alpha-7 deficiency

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive

immunodeficiency-centromeric instability-facial anomalies syndrome 3

immunodeficiency-centromeric instability-facial anomalies syndrome 4

severe combined immunodeficiency with sensitivity to ionizing radiation

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

hereditary arterial and articular multiple calcification syndrome

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1

primary autosomal recessive microcephaly 2 with or without cortical malformations

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

mitochondrial complex V (ATP synthase) deficiency nuclear type 3

mitochondrial complex V (ATP synthase) deficiency nuclear type 4

mitochondrial complex V (ATP synthase) deficiency nuclear type 2

intellectual developmental disorder with short stature and behavioral abnormalities

inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3

neurodevelopmental disorder with midbrain and hindbrain malformations

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

cerebellar ataxia, mental retardation and dysequlibrium syndrome

diaphyseal medullary stenosis with malignant fibrous histiocytoma

low molecular weight proteinuria with hypercalciuric nephrocalcinosis

midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

autosomal recessive congenital bilateral absence of vas deferens

agenesis of corpus callosum, cardiac, ocular, and genital syndrome

alacrima, achalasia, and impaired intellectual development syndrome

mutilating palmoplantar keratoderma with periorificial keratotic plaques

autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques

X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

syndactyly-telecanthus-anogenital and renal malformations syndrome

X-linked epilepsy with variable learning disabilities and behavior disorders

hereditary combined deficiency of vitamin K-dependent clotting factors

immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis

immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

X-linked intellectual disability-short stature-overweight syndrome

growth hormone insensitivity syndrome with immune dysregulation 2

growth hormone insensitivity syndrome with immune dysregulation 1

congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

congenital limbs-face contractures-hypotonia-developmental delay syndrome