Phenotypes for disease #05111 (HMN (neuropathy, motor, distal, hereditary (HMN)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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106 entries on 2 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000043141	Neuropathy, distal hereditary motor	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00056453
0000043143	Neuropathy, distal hereditary motor	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00056455
0000043149	neuropathy, distal hereditary motor	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00056461
0000043152	Neuropathy, distal hereditary motor	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00056464
0000043153	neuropathy, distal hereditary motor	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00056465
0000043188	distal hereditary motor neuropathy	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00056500
0000073371	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00094983
0000073373	see paper	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00094985
0000153665	multi-generation family, 21 affecteds, 5 tested, branch with unaffected carriers	spinal muscular atrophy	HMN-5A	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00205494
0000153668	4-generation family, affected mother, father, grandfather, 2 siblings	distal hereditary motor neuropathy	HMN-5A	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00205497
0000153669	-	spinal muscular atrophy	HMN-5A	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00205498
0000153671	4-generation family, 6 affecteds	spinal muscular atrophy	HMN-5A	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00205500
0000153673	2-generation family, non-carrier parents	spinal muscular atrophy, infantile	HMN-5A	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00205502
0000153674	-	distal hereditary motor neuropathy	HMN-5A	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00205503
0000153675	multi-generation family, 17 affecteds, 17 tested	spinal muscular atrophy	HMN-5A	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00205504
0000167633	HMN5B	hereditary distal motor neuropathy	HMN-5B	Unknown	-	-	-	-	-	Johan den Dunnen	00219076
0000227306	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00299985
0000227308	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00299987
0000227320	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00299999
0000227327	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300006
0000227340	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300019
0000227356	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300035
0000227358	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300037
0000227361	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300040
0000227362	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300041
0000227363	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300042
0000227372	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300051
0000227373	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300052
0000227383	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300062
0000227385	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300064
0000227386	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300065
0000227391	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300070
0000227395	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300074
0000227397	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300076
0000227405	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300084
0000227410	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300089
0000227424	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300103
0000227427	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300106
0000227438	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300117
0000227444	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300123
0000227445	-	hereditar motor neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00300124
0000227462	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300141
0000227468	-	hereditar motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00300147
0000227472	-	hereditar motor neuropathy	-	Familial	-	-	-	-	-	Johan den Dunnen	00300151
0000230524	see paper; ...	distal hereditary motor neuropathy	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00303444
0000230525	see paper; ...	distal hereditary motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00303445
0000230526	see paper; ...	distal hereditary motor neuropathy	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00303446
0000230527	see paper; ...	distal hereditary motor neuropathy	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00303447
0000254569	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	20y	-	-	-	-	Johan den Dunnen	00359273
0000254570	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	22y	-	-	-	-	Johan den Dunnen	00359274
0000254571	see paper; ..., distal weakness LL+UL; proximal weakness LL; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	40y	-	-	-	-	Johan den Dunnen	00359275
0000254572	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; cerebellar ataxia	distal hereditary motor neuropathy	-	Familial, autosomal recessive	30y	-	-	-	-	Johan den Dunnen	00359276
0000254573	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	40y	-	-	-	-	Johan den Dunnen	00359277
0000254574	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	45y	-	-	-	-	Johan den Dunnen	00359278
0000254575	see paper; ..., distal weakness LL; proximal weakness LL; spasticity lower legs; sensory involvement LL; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	30y	-	-	-	-	Johan den Dunnen	00359279
0000254576	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	14y	-	-	-	-	Johan den Dunnen	00359280
0000254577	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; Spasticity	distal hereditary motor neuropathy	-	Familial, autosomal dominant	15y	-	-	-	-	Johan den Dunnen	00359281
0000254578	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	40y	-	-	-	-	Johan den Dunnen	00359282
0000254579	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 550 (U/L)	distal hereditary motor neuropathy	-	Familial, autosomal dominant	20y	-	-	-	-	Johan den Dunnen	00359283
0000254580	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	35y	-	-	-	-	Johan den Dunnen	00359284
0000254581	see paper; ..., distal weakness LL+UL; proximal weakness LL; spasticity lower legs; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Isolated (sporadic)	40y	-	-	-	-	Johan den Dunnen	00359285
0000254582	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	5y	-	-	-	-	Johan den Dunnen	00359286
0000254583	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; Spasticity	distal hereditary motor neuropathy	-	Familial, autosomal dominant	40y	-	-	-	-	Johan den Dunnen	00359287
0000254584	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	45y	-	-	-	-	Johan den Dunnen	00359288
0000254585	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	20y	-	-	-	-	Johan den Dunnen	00359289
0000254586	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	45y	-	-	-	-	Johan den Dunnen	00359290
0000254587	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	50y	-	-	-	-	Johan den Dunnen	00359291
0000254588	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	20y	-	-	-	-	Johan den Dunnen	00359292
0000254589	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	26y	-	-	-	-	Johan den Dunnen	00359293
0000254590	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	22y	-	-	-	-	Johan den Dunnen	00359294
0000254591	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Isolated (sporadic)	60y	-	-	-	-	Johan den Dunnen	00359295
0000254592	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	45y	-	-	-	-	Johan den Dunnen	00359296
0000254593	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; CK level 300 (U/L); feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	50y	-	-	-	-	Johan den Dunnen	00359297
0000254594	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Isolated (sporadic)	20y	-	-	-	-	Johan den Dunnen	00359298
0000254595	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	30y	-	-	-	-	Johan den Dunnen	00359299
0000254596	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	45y	-	-	-	-	Johan den Dunnen	00359300
0000254597	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 300 (U/L)	distal hereditary motor neuropathy	-	Isolated (sporadic)	20y	-	-	-	-	Johan den Dunnen	00359301
0000254598	see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; Spasticity; CK level 220 (U/L); spasticity lower legs	distal hereditary motor neuropathy	-	Familial, autosomal dominant	38y	-	-	-	-	Johan den Dunnen	00359302
0000254599	see paper; ..., distal weakness LL+UL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	24y	-	-	-	-	Johan den Dunnen	00359303
0000254600	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	35y	-	-	-	-	Johan den Dunnen	00359304
0000254601	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	32y	-	-	-	-	Johan den Dunnen	00359305
0000254602	see paper; ..., distal weakness LL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	36y	-	-	-	-	Johan den Dunnen	00359306
0000254603	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	30y	-	-	-	-	Johan den Dunnen	00359307
0000254604	see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	50y	-	-	-	-	Johan den Dunnen	00359308
0000254605	see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	30y	-	-	-	-	Johan den Dunnen	00359309
0000254606	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Isolated (sporadic)	9y	-	-	-	-	Johan den Dunnen	00359310
0000254607	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	60y	-	-	-	-	Johan den Dunnen	00359311
0000254608	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	12y	-	-	-	-	Johan den Dunnen	00359312
0000254609	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	15y	-	-	-	-	Johan den Dunnen	00359313
0000254610	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement	distal hereditary motor neuropathy	-	Familial, autosomal dominant	30y	-	-	-	-	Johan den Dunnen	00359314
0000254611	see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 530 (U/L)	distal hereditary motor neuropathy	-	Isolated (sporadic)	60y	-	-	-	-	Johan den Dunnen	00359315
0000254612	see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	15y	-	-	-	-	Johan den Dunnen	00359316
0000254613	see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia	distal hereditary motor neuropathy	-	Familial, autosomal dominant	8y	-	-	-	-	Johan den Dunnen	00359317
0000301375	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	64y	-	12y	-	-	Johan den Dunnen	00409258
0000301376	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	25y	-	10y	-	-	Johan den Dunnen	00409259
0000301377	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	30y	-	13y	-	-	Johan den Dunnen	00409260
0000301378	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	58y	-	12y	-	-	Johan den Dunnen	00409261
0000301379	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	22y	-	13y	-	-	Johan den Dunnen	00409262
0000301380	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	20y	-	13y	-	-	Johan den Dunnen	00409263
0000301381	see paper; ...	distal hereditary motor neuropathy	HMN9	Familial, autosomal dominant	45y	-	9y	-	-	Johan den Dunnen	00409264

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