|
1
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
2
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002242)
|
Abnormality of the intestine |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0002909)
|
Generalized aminoaciduria |
|
|
|
|
13 / 7739
|
|
9
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
10
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
11
|
(OMIM)
|
Hearing loss, profound congenital sensorineural |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Intractable vomiting |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
14
|
(OMIM)
|
Small bowel biopsy shows crypt hyperplastic villus atrophy, inflammatory infiltrate within the lamina propria, and disorganized surface epithelium |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Homozygous 122Kb deletion 11p15-p14 |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|