Pointed chin
Symptom Information:
Symptom ID: | HPO:0000307 | ||||
Synonyms: |
|
||||
Quality: | |||||
Cross references: |
|
||||
Is a (Direct Parents): |
|
||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the chin(HPO:0000306) Pointed chin(HPO:0000307) MedDRA: |
||||
Database Frequency: | 45 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
15q14 microdeletion syndrome | (Orphanet:261190) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
1p36 deletion syndrome | (Orphanet:1606) |
3M syndrome | (Orphanet:2616) |
Alagille syndrome | (Orphanet:52) |
Arachnodactyly - intellectual deficit - dysmorphism | (Orphanet:1130) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Brachymorphism - onychodysplasia - dysphalangism | (Orphanet:1292) |
Costello syndrome | (Orphanet:3071) |
Deafness - epiphyseal dysplasia - short stature | (Orphanet:3218) |
Deafness with labyrinthine aplasia, microtia, and microdontia | (Orphanet:90024) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal trisomy 6p | (Orphanet:1745) |
Familial osteodysplasia, Anderson type | (Orphanet:2769) |
Focal dermal hypoplasia | (Orphanet:2092) |
Focal facial dermal dysplasia | (Orphanet:79133) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
Generalized congenital lipodystrophy with myopathy | (Orphanet:228429) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Harrod syndrome | (Orphanet:2115) |
KBG syndrome | (Orphanet:2332) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | (OMIM:248000) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | (OMIM:614202) |
Megalencephaly | (Orphanet:2477) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Monosomy 22q13 | (Orphanet:48652) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Non-progressive cerebellar ataxia with intellectual deficit | (Orphanet:314647) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
Schilbach-Rott syndrome | (Orphanet:2353) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Sotos syndrome | (Orphanet:821) |
THREE M SYNDROME 2 | (OMIM:612921) |
THREE M SYNDROME 3 | (OMIM:614205) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |