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Items: 9

1.

Congenital disorder of glycosylation type 1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). [from OMIM]

MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
2.

Hereditary sensory neuropathy-deafness-dementia syndrome

DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems comprising a phenotypic spectrum that includes hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). DNMT1 disorder is often characterized by moderate-to-severe sensorineural hearing loss beginning in the teens or early 20s, sensory impairment, sudomotor dysfunction (loss of sweating), and dementia usually beginning in the mid-40s. In some affected individuals, narcolepsy/cataplexy syndrome and ataxia are predominant findings. [from GeneReviews]

MedGen UID:
481515
Concept ID:
C3279885
Disease or Syndrome
3.

Congenital myasthenic syndrome 11

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

MedGen UID:
902189
Concept ID:
C4225367
Disease or Syndrome
4.

Usher syndrome type 1E

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. [from GeneReviews]

MedGen UID:
400865
Concept ID:
C1865865
Disease or Syndrome
5.

Idiopathic hypersomnia

A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded. [from ORDO]

MedGen UID:
155626
Concept ID:
C0751757
Disease or Syndrome
6.

Submucous cleft of soft and hard palate

Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. [from HPO]

MedGen UID:
1384667
Concept ID:
C4477069
Congenital Abnormality
7.

Amelogenesis imperfecta type 1E

Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988). [from OMIM]

MedGen UID:
336847
Concept ID:
C1845053
Disease or Syndrome
8.

X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [from MONDO]

MedGen UID:
336845
Concept ID:
C1845051
Disease or Syndrome
9.

Infective endocarditis

A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly <i>Staphylococcus</i> and <i>Streptococcus</i> species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure. [from ORDO]

MedGen UID:
323818
Concept ID:
C1541923
Disease or Syndrome
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