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Items: 10

1.

Glaucoma 1, open angle, a, digenic

MedGen UID:
865187
Concept ID:
C4016750
Finding
2.

Glaucoma 1, open angle, a, autosomal recessive

MedGen UID:
865186
Concept ID:
C4016749
Finding
3.

Pseudohypoparathyroidism type I A

A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism. [from NCI]

MedGen UID:
488447
Concept ID:
C3494506
Disease or Syndrome
4.

Atypical Rett syndrome

A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. [from SNOMEDCT_US]

MedGen UID:
440664
Concept ID:
C2748910
Disease or Syndrome
5.

Rett syndrome, zappella variant

MedGen UID:
393807
Concept ID:
C2677682
Disease or Syndrome
6.

Glaucoma 3, primary congenital, a, digenic

MedGen UID:
357074
Concept ID:
C1866550
Finding
7.

Early infantile epileptic encephalopathy 9

MedGen UID:
338393
Concept ID:
C1848137
Disease or Syndrome
8.

Primary open angle glaucoma juvenile onset 1

Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
[from GHR]

MedGen UID:
333974
Concept ID:
C1842028
Disease or Syndrome
9.

Craniofrontonasal dysplasia

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004). [from OMIM]

MedGen UID:
65095
Concept ID:
C0220767
Disease or Syndrome
10.

Rett syndrome

MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 variants are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males. [from GeneReviews]

MedGen UID:
48441
Concept ID:
C0035372
Disease or Syndrome
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