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Items: 4

1.

Renal cysts and diabetes syndrome

The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years). [from GeneReviews]

MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
2.

X-linked spondyloepimetaphyseal dysplasia

A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. [from SNOMEDCT_US]

MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
3.

Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). See also DOORS syndrome (220500), which shows some overlapping clinical features. [from OMIM]

MedGen UID:
1788511
Concept ID:
C5543496
Disease or Syndrome
4.

Abnormality of alkaline phosphatase level

An abnormality of alkaline phosphatase level. [from HPO]

MedGen UID:
892397
Concept ID:
C4025328
Finding
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