Delayed speech and language development, and Pneumonia

Medium match FG SYNDROME 2; FGS2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

• Intellectual disability
• Generalized hypotonia
• Failure to thrive
• Delayed speech and language development
• Macrocephaly

SOURCES: OMIM UMLS GARD MONDO

Medium match RETINITIS PIGMENTOSA 71; RP71

• Autosomal recessive inheritance
• Scoliosis
• Delayed speech and language development
• Blindness
• Abnormality of the skeletal system

SOURCES: OMIM UMLS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MONDO UMLS

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MONDO UMLS

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

• Autosomal dominant inheritance
• Growth delay
• Failure to thrive
• Delayed speech and language development
• Tics

SOURCES: MESH MONDO OMIM UMLS

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

COXPD12 is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 Is also known as leukoencephalopathy with thalamus and brainstem involvement and high lactate;ltbl;coxpd12; combined oxidative phosphorylation defect type 12; ltbl

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Failure to thrive

SOURCES: MONDO UMLS GARD ORPHANET OMIM

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as nucleoside phosphorylase deficiency;pnp deficiency; pnpase deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Generalized hypotonia
• Ataxia
• Failure to thrive

SOURCES: SCTID NCIT OMIM ORPHANET DOID MESH GARD UMLS MONDO ICD10

Medium match JOUBERT SYNDROME 14; JBTS14

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Pica
• Hypertelorism

SOURCES: DOID UMLS OMIM MONDO

Medium match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as dpd deficiency, dpyd deficiency, thymine-uraciluria, hereditary, pyrimidinemia, familial;familial pyrimidinemia

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: NCIT ORPHANET MONDO MESH OMIM DOID GARD SCTID

Medium match ARTS SYNDROME; ARTS

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy (de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory tract, can result in early death.

ARTS SYNDROME; ARTS Is also known as mental retardation, x-linked, syndromic, arts type;mrxsarts, ataxia, fatal x-linked, with deafness and loss of vision, mental retardation, x-linked, syndromic 18;mrxs18;arts syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: MONDO DOID GARD OMIM UMLS SCTID MESH ORPHANET