Phenomizer Diagnosis Report March 19, 2017

1 Patient data
Name, Firstname:

Date of birth:

Gender: Male Female {

2 Query

Query Terms:
Autoimmune neutropenia (HP:0001904)
Gingival overgrowth (HP:0000212)
Cerebral palsy (HP:0100021)
Delayed eruption of primary teeth (HP:0000680)

Cerebral atrophy (HP:0002059)

Yellow-brown discoloration of the teeth (HP:0006286)
Abnormal serum cobalamin (HP:0040126)

Progressive spastic quadriplegia (HP:0002478)

Inheritance: none
Similarity measure: Resnik (not symmetric)

3 Results

p-Value Score Disease entry Known Genes

0.0908 2.4560 #266265 CONGENITAL DISORDER OF GLY- SLC35C1
COSYLATION, TYPE IIC; CDG2C;;CDG
IIC; CDGIIC;;LEUKOCYTE ADHESION
DEFICIENCY, TYPE II; LAD2;;RAMBAM-
HASHARON SYNDROME; RHS (OMIM:266265)
0.0908 2.2075 CYCLIC HEMATOPOIESIS (OMIM:162800) ELANE
0.0908 2.1992 #226750 KOHLSCHUTTER-TONZ SYN- ROGDI
DROME; KTZS;;EPILEPSY AND YELLOW
TEETH;;EPILEPSY, DEMENTIA, AND AMEL-
OGENESIS IMPERFECTA;;KOHLSCHUTTER
SYNDROME (OMIM:226750)
0.0908 1.9702 RUTHERFURD SYNDROME (OMIM:180900)

Reference:
K
ohler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
The American Journal of Human Genetics 85, pp. 457-464, Oktober 2009.
Phenomizer Diagnosis Report March 19, 2017

p-Value Score Disease entry Known Genes

0.0908 1.8797 LOCKED-IN SYNDROME (ORPHANET:2406)

0.0908 1.4546 #612900 CEREBRAL PALSY, SPASTIC KANK1, ADD3, GAD1
QUADRIPLEGIC, 2; CPSQ2 (OMIM:612900)
0.0916 1.2682 HYPOMYELINATION - HYPOGONADOTROPIC POLR3B, POLR3A,
HYPOGONADISM - HYPODONTIA (OR- POLR1C
PHANET:88637)
0.0981 1.2385 SPASTIC DIPLEGIA, INFANTILE TYPE
(OMIM:270600)
0.0991 2.7236 #277380 METHYLMALONIC ACIDURIA LMBRD1
AND HOMOCYSTINURIA, CBLF
TYPE;;METHYLMALONIC ACIDEMIA
AND HOMOCYSTINURIA, CBLF
TYPE;;METHYLMALONIC ACIDURIA
DUE TO VITAMIN B12-RELEASE DE-
FECT;;VITAMIN B12 LYSOSOMAL RELEASE
DEFECT;;COBALAMIN, DEFECT IN LYSOSO-
MAL RELEASE OF;;VITAMIN B12 STORAGE
DISEASE;;COBALAMIN F DISEASE; CBLF
(OMIM:277380)
0.0991 2.4293 #300260 LUBS X-LINKED MENTAL RE- MECP2
TARDATION SYNDROME; MRXSL;;MECP2
DUPLICATION SYNDROME;;MENTAL RE-
TARDATION, X-LINKED, SYNDROMIC, LUBS
TYPE;;MENTAL RETARDATION, X-LINKED,
WITH RECURRENT RESPIRATORY INFEC-
TIONS (OMIM:300260)

4 Further analysis
(Shown is a list of features that are special to the corresponding OMIM entry and not shared by another OMIM entry
from the result list.)

OMIM en- Features

try

#266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC;

CDG2C;;CDG IIC; CDGIIC;;LEUKOCYTE ADHESION DEFICIENCY, TYPE II;
LAD2;;RAMBAM-HASHARON SYNDROME; RHS (OMIM:266265)
CYCLIC HEMATOPOIESIS (OMIM:162800)
#226750 KOHLSCHUTTER-TONZ SYNDROME; KTZS;;EPILEPSY AND YEL-
LOW TEETH;;EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPER-
FECTA;;KOHLSCHUTTER SYNDROME (OMIM:226750)

Reference:
K
ohler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
The American Journal of Human Genetics 85, pp. 457-464, Oktober 2009.
Phenomizer Diagnosis Report March 19, 2017

OMIM en- Features

try

RUTHERFURD SYNDROME (OMIM:180900)

LOCKED-IN SYNDROME (ORPHANET:2406)
#612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2
(OMIM:612900)
HYPOMYELINATION - HYPOGONADOTROPIC HYPOGONADISM - HY-
PODONTIA (ORPHANET:88637)
SPASTIC DIPLEGIA, INFANTILE TYPE (OMIM:270600)
#277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF
TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CBLF
TYPE;;METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE
DEFECT;;VITAMIN B12 LYSOSOMAL RELEASE DEFECT;;COBALAMIN,
DEFECT IN LYSOSOMAL RELEASE OF;;VITAMIN B12 STORAGE DIS-
EASE;;COBALAMIN F DISEASE; CBLF (OMIM:277380)
#300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME;
MRXSL;;MECP2 DUPLICATION SYNDROME;;MENTAL RETARDATION,
X-LINKED, SYNDROMIC, LUBS TYPE;;MENTAL RETARDATION, X-LINKED,
WITH RECURRENT RESPIRATORY INFECTIONS (OMIM:300260)
Abnormality of head or neck:
- Macrocephaly (HP:0000256)
- Drooling (HP:0002307)
- Flat midface (HP:0040199)
- Malar flattening (HP:0000272)
- Narrow mouth (HP:0000160)
- Depressed nasal bridge (HP:0005280)
- Facial hypotonia (HP:0000297)
- Tented upper lip vermilion (HP:0010804)
- Brachycephaly (HP:0000248)
Abnormality of the abdomen:
- Dysphagia (HP:0002015)
- Constipation (HP:0002019)
- Gastroesophageal reflux (HP:0002020)
Abnormality of the ear:
- Macrotia (HP:0000400)
Abnormality of the genitourinary system:
- Cryptorchidism (HP:0000028)
Abnormality of the musculature:
- Facial hypotonia (HP:0000297)
- Infantile muscular hypotonia (HP:0008947)
Abnormality of the nervous system:
- Absent speech (HP:0001344)
- Drooling (HP:0002307)
- Depression (HP:0000716)
- Rigidity (HP:0002063)
- Severe global developmental delay (HP:0011344)
- Chorea (HP:0002072)
- Dysphagia (HP:0002015)
- Anxiety (HP:0000739)
- Poor eye contact (HP:0000817)

Reference:
K
ohler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
The American Journal of Human Genetics 85, pp. 457-464, Oktober 2009.
Phenomizer Diagnosis Report March 19, 2017

OMIM en- Features

try

- Bruxism (HP:0003763)
Abnormality of the skeletal system:
- Macrocephaly (HP:0000256)
- Malar flattening (HP:0000272)
- Brachycephaly (HP:0000248)

Reference:
K
ohler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
The American Journal of Human Genetics 85, pp. 457-464, Oktober 2009.