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Items: 5

1.

Autosomal recessive nonsyndromic hearing loss 35

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene. [from MONDO]

MedGen UID:
324897
Concept ID:
C1837857
Disease or Syndrome
2.

Microphthalmia, isolated, with coloboma 5

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. [from MONDO]

MedGen UID:
369356
Concept ID:
C1968843
Disease or Syndrome
3.

Keratosis pilaris atrophicans

Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015). [from OMIM]

MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
4.

Kohlschutter-Tonz syndrome-like

Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021). [from OMIM]

MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
5.

Abnormality of vision

Abnormality of eyesight (visual perception). [from HPO]

MedGen UID:
871352
Concept ID:
C4025846
Finding
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