Human Phenotype Ontology 
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Feeding difficulties (HP:0011968)help
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Feeding difficulties in infancy (HP:0008872)help
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Poor suck (HP:0002033)help
Term ID: 2033
Name: Poor suck
Synonym: Poor suck; Poor sucking; Sucking weakness
Definition: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Comments:
Reference: HP:0002033
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGastrojejunal tube feeding in infancy (HP:0030884) help
..expandGastrostomy tube feeding in infancy (HP:0011471) help
..expandNasal regurgitation (HP:0011469) help
..expandNasogastric tube feeding in infancy (HP:0011470) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002033HP:0002033Poor suck0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002033HP:0002033Poor suck0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0002033HP:0002033Poor suck0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0002033HP:0002033Poor suck0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0002033HP:0002033Poor suck0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0002033HP:0002033Poor suck0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0002033HP:0002033Poor suck0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0002033HP:0002033Poor suck0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0002033HP:0002033Poor suck0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0002033HP:0002033Poor suck0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0002033HP:0002033Poor suck0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0002033HP:0002033Poor suck0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0002033HP:0002033Poor suck0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0002033HP:0002033Poor suck0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent200
HP:0002033HP:0002033Poor suck0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0002033HP:0002033Poor suck0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent200
HP:0002033HP:0002033Poor suck0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent200
HP:0002033HP:0002033Poor suck0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0002033HP:0002033Poor suck0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0002033HP:0002033Poor suck0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0002033HP:0002033Poor suck0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0002033HP:0002033Poor suck0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0002033HP:0002033Poor suck0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0002033HP:0002033Poor suck0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0002033HP:0002033Poor suck0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0002033HP:0002033Poor suck0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0002033HP:0002033Poor suck0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0002033HP:0002033Poor suck0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002033HP:0002033Poor suck0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent22
HP:0002033HP:0002033Poor suck0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0002033HP:0002033Poor suck0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent22
HP:0002033HP:0002033Poor suck0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent22
HP:0002033HP:0002033Poor suck0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0002033HP:0002033Poor suck0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0002033HP:0002033Poor suck0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent3
HP:0002033HP:0002033Poor suck0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0002033HP:0002033Poor suck0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent3
HP:0002033HP:0002033Poor suck0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent3
HP:0002033HP:0002033Poor suck0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0002033HP:0002033Poor suck0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002033HP:0002033Poor suck0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0002033HP:0002033Poor suck0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0002033HP:0002033Poor suck0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0002033HP:0002033Poor suck0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent17
HP:0002033HP:0002033Poor suck0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0002033HP:0002033Poor suck0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent17
HP:0002033HP:0002033Poor suck0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent17
HP:0002033HP:0002033Poor suck0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0002033HP:0002033Poor suck0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent172
HP:0002033HP:0002033Poor suck0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent48
HP:0002033HP:0002033Poor suck0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0002033HP:0002033Poor suck0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent48
HP:0002033HP:0002033Poor suck0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent48
HP:0002033HP:0002033Poor suck0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent2
HP:0002033HP:0002033Poor suck0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0002033HP:0002033Poor suck0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent2
HP:0002033HP:0002033Poor suck0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent2
HP:0002033HP:0002033Poor suck0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002033HP:0002033Poor suck0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent173
HP:0002033HP:0002033Poor suck0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0002033HP:0002033Poor suck0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent173
HP:0002033HP:0002033Poor suck0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent173
HP:0002033HP:0002033Poor suck0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0002033HP:0002033Poor suck0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002033HP:0002033Poor suck0GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040282 - Frequent12
HP:0002033HP:0002033Poor suck0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0002033HP:0002033Poor suck0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0002033HP:0002033Poor suck0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0002033HP:0002033Poor suck0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0002033HP:0002033Poor suck0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040283 - Occasional113
HP:0002033HP:0002033Poor suck0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0002033HP:0002033Poor suck0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002033HP:0002033Poor suck0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0002033HP:0002033Poor suck0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0002033HP:0002033Poor suck0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0002033HP:0002033Poor suck0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0002033HP:0002033Poor suck0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0002033HP:0002033Poor suck0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040281 - Very frequent63
HP:0002033HP:0002033Poor suck0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0002033HP:0002033Poor suck0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0002033HP:0002033Poor suck0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0002033HP:0002033Poor suck0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0002033HP:0002033Poor suck0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0002033HP:0002033Poor suck0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0002033HP:0002033Poor suck0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0002033HP:0002033Poor suck0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0002033HP:0002033Poor suck0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0002033HP:0002033Poor suck0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0002033HP:0002033Poor suck0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0002033HP:0002033Poor suck0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0002033HP:0002033Poor suck0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002033HP:0002033Poor suck0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0002033HP:0002033Poor suck0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent45
HP:0002033HP:0002033Poor suck0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0002033HP:0002033Poor suck0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent45
HP:0002033HP:0002033Poor suck0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent45
HP:0002033HP:0002033Poor suck0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0002033HP:0002033Poor suck0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0002033HP:0002033Poor suck0NUDT2 CL E G H3188049OMIM:619844
HP:0002033HP:0002033Poor suck0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0002033HP:0002033Poor suck0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0002033HP:0002033Poor suck0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0002033HP:0002033Poor suck0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0002033HP:0002033Poor suck0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0002033HP:0002033Poor suck0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0002033HP:0002033Poor suck0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent
HP:0002033HP:0002033Poor suck0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002033HP:0002033Poor suck0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002033HP:0002033Poor suck0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.HP:0003593 - Infantile onset28
HP:0002033HP:0002033Poor suck0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent665
HP:0002033HP:0002033Poor suck0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0002033HP:0002033Poor suck0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent665
HP:0002033HP:0002033Poor suck0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent665
HP:0002033HP:0002033Poor suck0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0002033HP:0002033Poor suck0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002033HP:0002033Poor suck0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0002033HP:0002033Poor suck0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0002033HP:0002033Poor suck0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0002033HP:0002033Poor suck0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0002033HP:0002033Poor suck0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0002033HP:0002033Poor suck0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040282 - Frequent80
HP:0002033HP:0002033Poor suck0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent
HP:0002033HP:0002033Poor suck0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0002033HP:0002033Poor suck0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0002033HP:0002033Poor suck0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0002033HP:0002033Poor suck0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent67
HP:0002033HP:0002033Poor suck0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0002033HP:0002033Poor suck0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent67
HP:0002033HP:0002033Poor suck0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent67
HP:0002033HP:0002033Poor suck0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent11
HP:0002033HP:0002033Poor suck0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040282 - Frequent40
HP:0002033HP:0002033Poor suck0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent32
HP:0002033HP:0002033Poor suck0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0002033HP:0002033Poor suck0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent32
HP:0002033HP:0002033Poor suck0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent32
HP:0002033HP:0002033Poor suck0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002033HP:0002033Poor suck0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0002033HP:0002033Poor suck0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0002033HP:0002033Poor suck0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent166
HP:0002033HP:0002033Poor suck0SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency.3
HP:0002033HP:0002033Poor suck0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0002033HP:0002033Poor suck0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0002033HP:0002033Poor suck0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0002033HP:0002033Poor suck0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0002033HP:0002033Poor suck0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent135
HP:0002033HP:0002033Poor suck0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002033HP:0002033Poor suck0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0002033HP:0002033Poor suck0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0002033HP:0002033Poor suck0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040281 - Very frequent37
HP:0002033HP:0002033Poor suck0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0002033HP:0002033Poor suck0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002033HP:0002033Poor suck0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002033HP:0002033Poor suck0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent1
HP:0002033HP:0002033Poor suck0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent1
HP:0002033HP:0002033Poor suck0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent99
HP:0002033HP:0002033Poor suck0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0002033HP:0002033Poor suck0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent99
HP:0002033HP:0002033Poor suck0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent99
HP:0002033HP:0002033Poor suck0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0002033HP:0002033Poor suck0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0002033HP:0002033Poor suck0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0002033HP:0002033Poor suck0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0002033HP:0002033Poor suck0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent1
HP:0002033HP:0002033Poor suck0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0002033HP:0002033Poor suck0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent1
HP:0002033HP:0002033Poor suck0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent1
HP:0002033HP:0002033Poor suck0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent32
HP:0002033HP:0002033Poor suck0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0002033HP:0002033Poor suck0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent32
HP:0002033HP:0002033Poor suck0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent32
HP:0002033HP:0002033Poor suck0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0002033HP:0002033Poor suck0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0002033HP:0002033Poor suck0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0002033HP:0002033Poor suck0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0002033HP:0002033Poor suck0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0002033HP:0002033Poor suck0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0002033HP:0002033Poor suck0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0002033HP:0002033Poor suck0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0002033HP:0002033Poor suck0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102
HP:0002033HP:0002033Poor suck0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0002033HP:0002033Poor suck0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040281 - Very frequent35
HP:0002033HP:0002033Poor suck0UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040282 - Frequent
HP:0002033HP:0002033Poor suck0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0002033HP:0002033Poor suck0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0002033HP:0002033Poor suck0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0002033HP:0002033Poor suck0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002033HP:0002033Poor suck0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0002033HP:0002033Poor suck0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002033HP:0002033Poor suck0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002033HP:0002033Poor suck0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002033HP:0002033Poor suck0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent34
HP:0002033HP:0002033Poor suck0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0002033HP:0002033Poor suck0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent34
HP:0002033HP:0002033Poor suck0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent34
HP:0002033HP:0002033Poor suck0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (138) :AASS AGRN ARHGAP29 ARID1A ASPA ATP6V0A1 ATP6V1B2 ATP7A ATPAF2 ATRX BMP4 BRAF CDH1 CDON CHAT CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COL13A1 COL2A1 COLQ DHCR7 DISP1 DLG1 DLK1 DLL1 DLX4 DPYD DST DYRK1A ECHS1 FGF8 FGFR1 FOXH1 GAS1 GGPS1 GLI2 GLRA2 GNB2 GRHL3 HADHA HADHB HERC2 HRAS HTRA2 IDH1 IPW IRF6 KMT5B LAMB2 LYRM4 MAGEL2 MEG3 MKRN3 MKRN3-AS1 MSX1 MTM1 MYO9A NAA20 NDUFAF3 NDUFB8 NDUFS2 NDUFS8 NECTIN1 NODAL NONO NPAP1 NUDT2 OCA2 PDGFRA PEX19 PEX2 PEX5 PLAA PLCH1 POGZ PPP1R21 PQBP1 PTCH1 PTPN23 PTS PWAR1 PWRN1 RAPSN RARS2 RERE RHBDF2 RTL1 SATB2 SCO2 SEPSECS SHH SIK1 SIM1 SIX3 SLC18A3 SLC25A1 SLC25A22 SLC52A1 SLC5A7 SMARCB1 SMARCC2 SMC1A SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX11 SPTBN1 SPTBN4 STAG2 STIL SURF1 SYT2 TALDO1 TBC1D24 TDGF1 TGIF1 TP63 TRIO TRMU TRNE TSEN15 TSEN2 TSEN34 TSEN54 UBA1 UBB UBE3A UGP2 UQCRC2 USP7 VAMP1 VRK1 ZIC2 ZNF699

Diseases (89) :ORPHA:2203 ORPHA:98914 ORPHA:199306 OMIM:614607 ORPHA:314911 OMIM:619970 ORPHA:79500 ORPHA:198 OMIM:604273 OMIM:301040 OMIM:613706 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:254210 OMIM:608930 OMIM:616313 OMIM:616323 OMIM:605809 OMIM:612540 ORPHA:93316 ORPHA:98915 OMIM:270400 ORPHA:254534 ORPHA:1675 OMIM:614653 ORPHA:268261 OMIM:616277 OMIM:619518 OMIM:301076 OMIM:619503 ORPHA:99772 ORPHA:746 OMIM:176270 OMIM:218040 ORPHA:3071 OMIM:617248 ORPHA:99646 OMIM:617788 OMIM:615595 ORPHA:398069 OMIM:615547 ORPHA:596 OMIM:619717 ORPHA:70474 OMIM:618222 ORPHA:466791 OMIM:619844 ORPHA:98794 OMIM:614886 OMIM:614866 OMIM:214110 OMIM:617527 OMIM:616364 OMIM:619383 OMIM:309500 OMIM:618890 OMIM:261640 OMIM:616326 OMIM:611523 ORPHA:494344 ORPHA:2198 OMIM:612313 ORPHA:2524 ORPHA:1935 ORPHA:171829 OMIM:618197 OMIM:615026 OMIM:617143 OMIM:614608 OMIM:618362 ORPHA:177907 OMIM:615866 OMIM:619475 OMIM:617519 OMIM:606003 ORPHA:476126 ORPHA:254864 OMIM:612389 OMIM:277470 ORPHA:1145 ORPHA:411511 ORPHA:98795 OMIM:618744 OMIM:615160 ORPHA:500055 OMIM:607596 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.