Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:2181
Name:Chromosome 10q26 Deletion Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002872|MESH:D007859|MESH:D019066
TreeNumbers:C10.597.606.150.550/C567182 |C23.550.210.050.500.500/C567182 |C23.550.291.812/C567182 |C23.888.592.604.150.550/C567182 |F03.550.350.500/C567182 |F03.550.450/C567182
Synonyms:Terminal Chromosome 10q26 Deletion Syndrome
Slim Mappings:Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C567182
MeSH: C567182
OMIM: 609625;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001547Abnormal rib cage morphology
3 HP:0001939Abnormality of metabolism/homeostasis
4 HP:0000718Aggressive behavior
5 HP:0001631Atrial septal defect
6 HP:0002136Broad-based gait
7 HP:0030084Clinodactyly
8 HP:0000444Convex nasal ridge
9 HP:0001363CraniosynostosisHP:0040283
10 HP:0000028Cryptorchidism
11 HP:0000750Delayed speech and language development
12 HP:0000268Dolichocephaly
13 HP:0000494Downslanted palpebral fissures
14 HP:0000286Epicanthus
15 HP:0000324Facial asymmetry
16 HP:0000454Flared nostrils
17 HP:0002007Frontal bossing
18 HP:0001290Generalized hypotonia
19 HP:0001263Global developmental delayHP:0040282
20 HP:0000752Hyperactivity
21 HP:0000316Hypertelorism
22 HP:0001252Hypotonia
23 HP:0001249Intellectual disability
24 HP:0001377Limited elbow extension
25 HP:0000343Long philtrum
26 HP:0002162Low posterior hairline
27 HP:0000369Low-set ears
28 HP:0000252Microcephaly
29 HP:0000347Micrognathia
30 HP:0000054Micropenis
31 HP:0001643Patent ductus arteriosus
32 HP:0003812Phenotypic variability
33 HP:0008897Postnatal growth retardation
34 HP:0000448Prominent nose
35 HP:0000411Protruding ear
36 HP:0009466Radial deviation of finger
37 HP:0000046Scrotal hypoplasia
38 HP:0001250Seizure
39 HP:0000407Sensorineural hearing impairment
40 HP:0000736Short attention span
41 HP:0000470Short neck
42 HP:0004322Short stature
43 HP:0001518Small for gestational age
44 HP:0001792Small nail
45 HP:0001328Specific learning disability
46 HP:0003745Sporadic
47 HP:0000486Strabismus
48 HP:0000219Thin upper lip vermilion
49 HP:0001770Toe syndactyly
50 HP:0000325Triangular face
51 HP:0000582Upslanted palpebral fissure
52 HP:0000076Vesicoureteral reflux
53 HP:0000465Webbed neck
54 HP:0006610Wide intermamillary distance
55 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants