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IDNADFS
MCID: INT362
MIFTS: 21
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Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies (IDNADFS)
Categories:
Bone diseases, Genetic diseases
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Aliases & Classifications for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic...
MalaCards integrated aliases for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:
Name: Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
57
73
29
6
17
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy variable features de novo mutation or deletion HPO:31
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies:
Inheritance autosomal dominant inheritance Classifications: |
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OMIM® :
57
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) is characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip. Some patients may have skeletal anomalies, such as brachydactyly, 2-3 toe syndactyly, and flat feet (summary by Alesi et al., 2019 and Uehara et al., 2019). (618608) (Updated 05-Mar-2021)
MalaCards based summary : Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies, is also known as idnadfs. An important gene associated with Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies is CNOT2 (CCR4-NOT Transcription Complex Subunit 2). Affiliated tissues include heart, and related phenotypes are scoliosis and hearing impairment UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies: An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet. |
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Symptoms & Phenotypes for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic...
Human phenotypes related to Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:31 (show all 20)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618608 (Updated 05-Mar-2021) |
Drugs & Therapeutics for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic...
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MalaCards organs/tissues related to Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:40
Heart
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Articles related to Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:
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Genes related to Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies:6
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies.
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